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Projetos de investigação
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPANHA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPAO
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAO
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAO
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ALEMANHA
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
ALEMANHA
Baden-Württemberg
FREIBURG
LRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
ALEMANHA
Baden-Württemberg
FREIBURG
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
ALEMANHA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
ALEMANHA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
ALEMANHA
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
ALEMANHA
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
ALEMANHA
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
Hessen
FRANKFURT AM MAIN
Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose
ALEMANHA
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
ALEMANHA
Niedersachsen
HANNOVER
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie
ALEMANHA
Sachsen
LEIPZIG
High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
ALEMANHA
Schleswig-Holstein
KIEL
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I
CANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences
ESPANHA
Cataluña
BADALONA
DIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Instituto de Investigación Germans Trias i Pujol
Grupo de investigación en neuromuscular y neuropediátrica
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Impact of human gut microbiome in the phenotypic divergence in X-linked adrenoleukodystophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
Madrid
MADRID
Molecular, OMIC and functional characterisation of mutations in the gene DLST in patients with pheochromocytoma/paraganglioma
Centro Nacional de Investigaciones Oncológicas (CNIO)
Grupo de Cáncer Endocrino Hereditario
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule er modulators for wolfram syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetics; pathophysiology; and treatment of recessive autoinflammatory diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of nomid; dira and other autoinflammatory diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Continuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Toward improved therapy for classic galactosemia
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
Development og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital
FINLANDIA
Finland
HELSINKI
Modeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
HELSINKI
TARID - Thymic abnormalities in rare immunological diseases -FI
University of Helsinki
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Gene therapy for Wolfram Syndrome
Institution: Information not provided - FR
FRANCA
AUVERGNE-RHONE-ALPES
BRON
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCA
AUVERGNE-RHONE-ALPES
BRON
Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCA
BOURGOGNE-FRANCHE-COMTE
DIJON
Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Vector quality control and patients' follow up in the gene therapy trials for adrenoleukodystrophy and metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie
FRANCA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANCA
ILE-DE-FRANCE
PARIS
Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques
FRANCA
ILE-DE-FRANCE
PARIS
Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANCA
ILE-DE-FRANCE
PARIS
Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANCA
ILE-DE-FRANCE
VILLEJUIF
Transition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie
FRANCA
PROVENCE-ALPES-COTE D'AZUR
NICE
Adrenal stem cells: identification, generation and culture for genetic modification
Université de Nice Sophia-Antipolis - Faculté des sciences
Génétique du développement normal et pathologique
ITALIA
LAZIO
ROMA
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families
A.O. S. Andrea
Servizio di Genetica Medica
ITALIA
LAZIO
ROMA
Genotype-phenotype correlations and therapeutic approaches in extreme insulin resistance syndromes due to mutation of the insulin receptor
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Laboratorio di Endocrinologia e Metabolismo Molecolare
ITALIA
LAZIO
ROMA
Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
ITALIA
LAZIO
ROMA
Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica
ITALIA
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
ITALIA
LAZIO
ROMA
Analysis of the DM2 pathogenic mechanisms using Drosophila as model system
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin
ITALIA
LOMBARDIA
MILANO
Excitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)
JAPAO
JAPAN
EHIME
Clarification of pathophysiological mechanisms for proteasome-associated autoinflammatory syndrome
Okayama University of Science Faculty of Veterinary Medicine
JAPAO
JAPAN
KYOTO
Discovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application
JAPAO
JAPAN
KYOTO
Advancing Care of Rare/Intractable Adrenal Diseases in Japan Study
National Hospital Organization Kyoto Medical Center
Clinical Research Institute for Endocrine and Metabolic Diseases
JAPAO
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
JAPAO
JAPAN
TOKUSHIMA
Therapeutic strategies for patients with immunoproteasomes dysfunctions
Tokushima University Graduate School of Biomedical Sciences
Department of Immunology and Parasitology
PAISES BAIXOS
Gelderland
NIJMEGEN
HNF1ß: master regulator of cilia formation and electrolyte homeostasis in ADTKD-HNF1ß patients
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten
REINO UNIDO
Cambridgeshire
CAMBRIDGE
Autoimmunity in AIRE deficient mice, a model of autoimmune polyendocrine syndrome type I
University of Cambridge
Department of Medicine
REINO UNIDO
Devon
EXETER
Preventing death and long term institutional care by developing a newborn screening strategy to Identify Neonatal Diabetes
Royal Devon and Exeter Hospital - Wonford site
Royal Devon and Exeter Hospital
REINO UNIDO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
REINO UNIDO
West Midlands
BIRMINGHAM
Clinical and laboratory based biomarker development to monitor disease progression and response to treatment in Wolfram Syndrome
Birmingham Children's Hospital NHS Foundation Trust
Alstrom, Bardet Biedl, Wolfram services
REINO UNIDO
West Midlands
BIRMINGHAM
Development of a novel repurposed drug treatment for the neurodegeneration and diabetes in Wolfram syndrome
University of Birmingham
School of Cancer Sciences
SUECIA
Region Stockholm
STOCKHOLM
Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health
SUICA
Suisse Alémanique
SCHLIEREN
Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy
SUICA
Suisse Romande
LAUSANNE
The genetic basis of combined pituitary hormone deficiency and pituitary neoplasms
Hôtel des Patients Service d'endocrinologie, diabétologie et métabolisme - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
ALEMANHA
Berlin
BERLIN
Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
ALEMANHA
Sachsen
DRESDEN
Novel therapeutic approaches for congenital adrenal hyperplasia (A04- TRR 205: The Adrenal: Central Relay in Health and Disease)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT
CANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
CANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
ESPANHA
Andalucía
SEVILLA
Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
ESPANHA
Cataluña
SABADELL
Effect of growth hormone treatment on brain connectivity and the structure of areas related to muscle tone in adults with Prader-Willi syndrome
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición
ESPANHA
Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Effect of abcd1 upon brain endothelium in x-linked adrenoleukodystrophy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule that act on gsp; the etiologic mutation responsible for fibrous dysplasia/mccune-albright syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Return of a fragile x syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in cameroon.
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Iodine status and congenital hypothyroidism in the usa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of adrenocortical tumors and related disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The physiology of adrenal insufficiency
Institution: Information not provided - US
FINLANDIA
Finland
TURKU
Genetics of congenital hypothyroidism in Finland
University of Turku
Institute of Biomedicine
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Targeting the vitamin D receptor for the treatment of rare diseases induced by calcitriosis
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer
FRANCA
GRAND-EST
STRASBOURG
Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCA
ILE-DE-FRANCE
PARIS
MGonDev: Understanding the Mechanisms of Human Gonadal Development - FR
Institut Pasteur
Génétique du Développement Humain - CNRS UMR3738
FRANCA
ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANCA
NORMANDIE
CAEN
Genetic lesions of the GS alpha protein (GNAS1) in Albright osteodystrophy and pseudohypoparathyroïdism type 1A and 1B
Faculté de médecine de Caen
Mobilités : Attention, Orientation et Chronobiologie (COMETE)
FRANCA
NORMANDIE
ROUEN
Influence of tissue plasminogen activator (t-PA)-induced cascades in the demyelinating white matter lesions of the preterm newborn
Faculté de médecine et de pharmacie de Rouen
Département de neuro-pédiatrie
FRANCA
NOUVELLE AQUITAINE
BORDEAUX
Communication in Prader-Willi syndrome: Study of emotional control related to behavioral disorders, their daily repercussions and examination of innovative therapies
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)
FRANCA
NOUVELLE AQUITAINE
PESSAC
Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne
FRANCA
OCCITANIE
MONTPELLIER
Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases
CHU de Montpellier - IURC
Laboratoire de Génétique Moléculaire
FRANCA
OCCITANIE
TOULOUSE
Resistance to thyroid hormones: molecular analysis of c-erbAbeta1 cofactors (SMRT, NCoR, SRC-1, MCT8)
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires
FRANCA
OCCITANIE
TOULOUSE
Structure-function relationship of the TSH receptor and of the related receptors
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires
FRANCA
PAYS DE LA LOIRE
ANGERS
Resistance to thyroid hormones: molecular analysis of c-erbAbeta1 cofactors (SMRT, NCoR, SRC-1, MCT8)
CHU d'Angers
UF de Biologie Moléculaire
FRANCA
PAYS DE LA LOIRE
ANGERS
Structure-function relationship of the TSH receptor and of the related receptors
CHU d'Angers
UF de Biologie Moléculaire
FRANCA
PAYS DE LA LOIRE
NANTES
Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie
FRANCA
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
IRLANDA
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALIA
FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALIA
LAZIO
FIUMICINO
Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
ITALIA
LAZIO
ROMA
Characterization of adenosine receptors in a mouse model of fragile X syndrome (FXS)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
ITALIA
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LAZIO
ROMA
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
ITALIA
PUGLIA
SAN GIOVANNI ROTONDO
Molecular characterisation of HRPT2 gene in subjects affected by familial primary hyperparathyroidism from parathyroid carcinoma
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica
JAPAO
JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPAO
JAPAN
TOKYO
Study of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
NORUEGA
Østlandet
SIGGERUD
School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study
Frambu kompetansesenter for sjeldne diagnoser
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
PAISES BAIXOS
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
REINO UNIDO
East Sussex
BRIGHTON
Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
University of Sussex
DNA double strand break repair laboratory
REINO UNIDO
Greater London
LONDON
The role of transcription factors in regulating expression of BBS (Bardet-Biedl Syndrome) proteins
GOSH NHS Foundatin Trust
Molecular Medicine Unit
REINO UNIDO
Greater London
LONDON
Who will benefit from bariatric surgery for diabetes? Using genetic markers and measurement of fat distribution to predict remission of diabetes
Imperial College London, main campus
Imperial College London Headquarters
REINO UNIDO
Greater London
LONDON
What dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
Kings College School of Medicine
Guy's and St Thomas NHS Foundation Trust
REINO UNIDO
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics
SUECIA
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SUECIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SUECIA
Region Västra Götaland
GÖTEBORG
Novel mechanisms of impaired thyroid development and function implicated in congenital hypothyroidism
Göteborg University
Department of Medical Biochemistry and Cell Biology
ALEMANHA
Berlin
BERLIN
SPP 1629: THYROID TRANS ACT - Development of T3-peptide ligands to treat MCT8 deficiency via a Trojan horse like mechanism
Charité - Universitätsmedizin Berlin (CVK)
Institut für Experimentelle Pädiatrische Endokrinologie
ALEMANHA
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
ALEMANHA
Schleswig-Holstein
KIEL
Identification of highly selective co-regulators of the androgen receptor based on a functional in vitro model of androgen insensitivity
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Hormonzentrum für Kinder und Jugendliche - Campus Kiel
CANADA
Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute
ESPANHA
Andalucía
SEVILLA
Identification of new molecular mechanisms leading to Hirschsprung disease and thyroid cancer, through a multiomic approach and correction of disease-associated phenotypes by gene editing
IBIS - Instituto de Biomedicina de Sevilla
Grupo de genética clínica y medicina genómica
ESPANHA
Asturias
OVIEDO
Optimization of treatment in X-linked hypophosphatemia. Effects on growth, epiphyseal cartilage and bone in mouse Hyp
Hospital Universitario Central de Asturias
Servicio de Pediatría
ESPANHA
Cataluña
BARCELONA
Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial
ESPANHA
Cataluña
BARCELONA
Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
ESPANHA
Cataluña
REUS
Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna
ESPANHA
Madrid
MADRID
Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for the treatment of hypoparathyroidism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and cellular determinants of enthesopathy in x-linked hypophosphatemia
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Hormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Brain and related studies in sids infants
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cellular mechanisms of respiratory and temperature control by the medullary 5-ht
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Natural history study of patients with excess androgen
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Therapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Opposing pathways in mammalian sex determination
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Exome sequencing in disorders of sex development: impact on patients and families
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCA
AUVERGNE-RHONE-ALPES
GRENOBLE
Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
FRANCA
ILE-DE-FRANCE
MONTROUGE
X-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496
ITALIA
CAMPANIA
NAPOLI
Analysis of ARX mutations in patients with neurodevelopmental diseases (NDDs)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
ITALIA
PUGLIA
SAN GIOVANNI ROTONDO
Medullary carcinoma screening and study of genotype in familial cases
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia
JAPAO
JAPAN
TOKYO
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine
ALEMANHA
Berlin
BERLIN
CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
ALEMANHA
Niedersachsen
GÖTTINGEN
Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
ALEMANHA
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
CANADA
Québec
MONTRÉAL
Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and Neurocognitive Development
Centre hospitalier universitaire Sainte-Justine
CHU Ste-Justine-Centre de recherche - Service d'Endocrinologie
ESPANHA
Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The regulation of pubertal onset and reproductive development
Institution: Information not provided - US
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
Projetos de investigação multicêntricos
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Nucleaire Geneeskunde
- Université de Liège
- Centre d'Immunologie de Liège
- Queen's University
- Department of Biomedical and Molecular Sciences
- The Mount Sinai School of Medicine
- Department of pediatric endocrinology
- Institut Pasteur de Lille
- Génomique et maladies métaboliques
- Haukeland University Hospital
- Department of Health
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Akademiska Sjukhuset
- Department of Medical Sciences
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Aachen
- Institut für Humangenetik
- IBGM - Instituto de Biología y Genética Molecular
- Laboratorio de Metabolopatias
- Centro de Regulación Genómica
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- CHU Paris Centre - Hôpital Cochin, Site Cochin
- Service d'endocrinologie et maladies métaboliques
- Institut Pasteur
- Génétique du Développement Humain - CNRS UMR3738
- AOU Careggi
- Dipartimento di Chirurgia e Medicina Traslazionale
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Universitätsklinikum Essen
- Klinik für Endokrinologie und Stoffwechselerkrankungen
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Institut Pasteur
- Génétique du Développement Humain - CNRS UMR3738
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
PAISES BAIXOS
Gelderland
NIJMEGEN
BETACURE: Personalized diagnosis and treatment of hyperinsulinemic hypoglycaemia caused by beta-cell pathology (COMPLETED)
BELGICA
LIEGE
LIEGE
EUROTHYMAIDE: understanding the mechanisms underlying the development of autoimmune diseases, by exploring the major biological functions of the thymus
CANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia: European-Canadian Consortium
ESTADOS UNIDOS
New York
NEW YORK
RGSDC: Rare Genetic Steroid Disorders Consortium
FRANCA
HAUTS-DE-FRANCE
LILLE
EUROGEBETA: European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases
NORUEGA
Vestlandet
BERGEN
EURADRENAL: pathophysiology and natural course of autoimmune adrenal failure in Europe (research)
REINO UNIDO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
REINO UNIDO
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
SUECIA
Region Uppsala
UPPSALA
EURAPS: autoimmune polyendocrine syndrome type I - a rare disorder of childhood as a model for autoimmunity (TERMINATED)
ALEMANHA
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
ALEMANHA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ESPANHA
Castilla - León
VALLADOLID
Fragile X syndrome network
ESPANHA
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
FRANCA
ILE-DE-FRANCE
PARIS
Réseau d'étude du complexe de Carney
FRANCA
ILE-DE-FRANCE
PARIS
MGonDev: Understanding the Mechanisms of Human Gonadal Development
ITALIA
TOSCANA
FIRENZE
Multiple Endocrine Neoplasia Network
PAISES BAIXOS
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
REINO UNIDO
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
ALEMANHA
Nordrhein-Westfalen
ESSEN
THYRONERVE: Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANCA
ILE-DE-FRANCE
PARIS
Réseau national d'étude du pseudohermaphrodisme masculin et autres troubles de développement sexuel
REINO UNIDO
West Midlands
BIRMINGHAM
Midlands Muscle Network
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
REINO UNIDO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
REINO UNIDO
West Midlands
BIRMINGHAM