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213 Resultado(s)

Ordenados por

Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRole of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCInvolvement of the ribosomal protein RPL13 in bone growth
Faculté de médecine de Nantes
Physiopathologie et pharmacologie cellulaire et moléculaire

NORUEGA

Østlandet
OSLO

Genetics of craniosynostosis
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser

REINO UNIDO

Essex
LONDON

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics

ALEMANHA

Baden-Württemberg
ULM

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCTREAT-HGPS: Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

ALEMANHA

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

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

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

AUSTRIA

WIEN
WIEN

LIAISE: The Impact of Achondroplasia on Quality of Life, Healthcare Resource Use, Clinical, Socio-economic and Psychosocial State of the Individual - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Pädiatrische Pulmologie, Allergologie und Endokrinologie

AUSTRIA

WIEN
WIEN

Endothelial senescence in progeria
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie

BELGICA

OOST-VLAANDEREN
GENT

Designing an integrated platform for the development of more precise medicine in Heritable Thoracic Aortic Disease
Center for Medical Genetics Gent
Centrum voor Medische Genetica - UZ Gent

BELGICA

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

CANADA

Alberta
CALGARY

Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Calgary Molecular Diagnostic Laboratory

CANADA

Alberta
CALGARY

CANADA

Colombie-Britannique
VANCOUVER

Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Colombie-Britannique
VANCOUVER

Financiado por um membro do IRDiRCCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Ontario
KINGSTON

Financiado por um membro do IRDiRCIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

ESPANHA

Cataluña
BARCELONA

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

ESPANHA

Madrid
MADRID

Lipodystrophy and sarcopenia in Hutchinson-Gilford progeria syndrome: mechanisms and role in disease progression
CNIC - Centro Nacional de Investigaciones Cardiovasculares
Fisiopatología cardiovascular molecular y genética

ESPANHA

País Vasco
BARAKALDO

Financiado por um membro do IRDiRCNew concept for the treatment of osteogenesis imperfecta: a pharmacological approach
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en células madre y terapia celular

ESTADOS UNIDOS

South Dakota
SIOUX FALLS

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCIn vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInnate immune regulation of stem cells in bone formation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCollagen-related diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCComponents and kinetics in exocytosis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDevelopmental studies in the skeletal dysplasias
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic bone disorders-autosomal recessive oi
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies in the skeletal dysplasias
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeritable disorders of connective tissue
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

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
MULHOUSE

Financiado por um membro do IRDiRCBioCaps: Programmed drug release by rolled-up biopolymer capsules - FR
Université de Haute-Alsace (UHA) - Campus Illberg
Institut de Science des Matériaux de Mulhouse (IS2M) - UMR7361 CNRS / UHA

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

CENTRE-VAL DE LOIRE
ORLÉANS

Financiado por um membro do IRDiRCFirst preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose

FRANCA

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCA

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

FRANCA

ILE-DE-FRANCE
PARIS

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

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

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)

ITALIA

ABRUZZO
L'AQUILA

Transfer strategy microparticles for the treatment of osteoporosis-induced deficits in RANKL (Receptor Activator of NF-kB Ligand)
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALIA

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALIA

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALIA

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCA novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

JAPAO

JAPAN
AICHI

JAPAO

JAPAN
HIROSHIMA

Financiado por um membro do IRDiRCDevelopment of anti-mineralization drug
Hiroshima University Graduate School of Biomedical and Health Sciences

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCEstablishment of disease models, analysis of pathomechanism and drug discovery for achondroplasia
Center for iPS Cell Research and Application, Kyoto University
Department of Cell Growth and Differentiation

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCDevelopment of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

JAPAO

JAPAN
TOKYO

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of Novel ALK2 Inhibitor for FOP
Graduate School of Medicine, The University of Tokyo

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of a novel therapy for achondroplasia with anti-FGF2 aptamer
RIBOMIC Inc.
Research and Development Division

NORUEGA

Østlandet
NESODDTANGEN

The Norwegian Adult Achondroplasia Study
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORUEGA

Østlandet
NESODDTANGEN

Physical form and acitivity habits in adults with achondroplasia
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORUEGA

Østlandet
NESODDTANGEN

The Norwegian Marfan Syndrome Study part 2: Reinvestigation after 10 years of adults with presumed Marfan syndrome
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORUEGA

Østlandet
OSLO

Cardiovascular complications, craniofacial aberrations, impaired breathing during sleep, sleep distruption, and fatigue in adults with verified Marfan syndrome
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

PAISES BAIXOS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PAISES BAIXOS

Zuid-Holland
LEIDEN

Financiado por um membro do IRDiRCNormalization of the vasculature to prevent heterotopic ossification in Fibrodysplasia ossificans progressiva - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Cel en Chemische Biologie

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

SUECIA

Region Stockholm
HUDDINGE

Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition

SUECIA

Region Västra Götaland
GÖTEBORG

Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine

SUICA

Suisse Romande
GENÈVE

Non-cell-autonomous circadian regulation of brain function
UNIGE
Département de Génétique et Evolution

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

ALEMANHA

Baden-Württemberg
TÜBINGEN

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie

ALEMANHA

Bayern
ERLANGEN

Identification and characterization of the pathogenetic interactions in ciliary chondrodysplasias
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut

ALEMANHA

Bayern
WÜRZBURG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

ALEMANHA

Bayern
WÜRZBURG

ALEMANHA

Berlin
ADDRESS: NOT PROVIDED - DE

ALEMANHA

Berlin
BERLIN

Analysis of structural and non-coding variants in patients with limb malformations
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

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

Hessen
LANGEN

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCThe role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

CANADA

Québec
MONTRÉAL

Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology

ESPANHA

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

ESPANHA

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

ESPANHA

Aragón
ZARAGOZA

Financiado por um membro do IRDiRCRedefining the Cornelia de Lange Spectrum by the integration of new clinical, genomic, transcriptomic and metabolic data
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional

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

Madrid
MADRID

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRegulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

RAPADILINO syndrome: clinical and genetic study
Terveyden ja hyvinvoinnin laitos (THL)
Finnish Institute for Health and Welfare (THL)

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCTargeting 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

NOUVELLE AQUITAINE
BORDEAUX

Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

ITALIA

ABRUZZO
L'AQUILA

Financiado por um membro do IRDiRCNew therapeutic approaches to osteopetrosis
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCDesigning therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALIA

EMILIA ROMAGNA
MODENA

Financiado por um membro do IRDiRCAnalysis of the roles of PBX1 and EMX2 in the development of the scapular and pelvic regions of the limbs
Università degli Studi di Modena e Reggio Emilia
Dipartimento di Biologia animale

ITALIA

LIGURIA
GENOVA

ITALIA

VENETO
ZELARINO

Financiado por um membro do IRDiRCTowards an innovative therapy of ectrodactyly ectodermal dysplasia clefting syndrome using allele specific RNA silencing
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

ITALIA

VENETO
ZELARINO

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

PAISES BAIXOS

Zuid-Holland
ROTTERDAM

Metopic suture synostosis (trigonocephaly): prenatal detection, brain functions and optimal treatment
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCWhat 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

SUECIA

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

SUECIA

Region Stockholm
STOCKHOLM

SUECIA

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

ALEMANHA

Berlin
BERLIN

Molecular genetics of autosomal-dominant hypertension with brachydactyly type E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems

ALEMANHA

Berlin
BERLIN

Epigenetic gene and ncRNA regulation in isolated forms of Brachydactyly Type E (BDE)
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems

ALEMANHA

Sachsen
DRESDEN

EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ESPANHA

Asturias
OVIEDO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US

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

Financiado por um membro do IRDiRCX-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCspEJCificity: Characterization of pre-EJC factors and their role in cell fate determination - FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

FRANCA

ILE-DE-FRANCE
PARIS

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

Projetos de investigação multicêntricos