Hledat výzkumný projekt
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Ukončené výzkumné projekty = 
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Výzkumné projekty
FRANCIE
ILE-DE-FRANCE
PARIS
EGR2: Grossesse et conception médicalement assistée dans les maladies rares
AP-HP.Centre - Université de Paris - Hôpital Cochin
Unité fonctionnelle de Médecine interne et centre de référence maladies rares
FRANCIE
PROVENCE-ALPES-COTE D'AZUR
NICE
Étude de la signalisation SYK dans les maladies inflammatoires chroniques
Centre Méditerranéen de Médecine Moléculaire
NĚMECKO
Berlin
BERLIN
CARPE: Endotheliale Dysfunktion und kardiovaskuläres Risiko nach Präeklampsie
Max-Delbrück-Centrum für Molekulare Medizin
Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft
NĚMECKO
Niedersachsen
OLDENBURG
Eine Pilotstudie zur Erforschung der immunologischen Regulation der Präeklampsie
Klinikum Oldenburg AöR
Universitätsklinik für Gynäkologie und Geburtshilfe
NĚMECKO
Schleswig-Holstein
LÜBECK
DSDCare: Standardisierte Zentren-zentrierte Versorgung von DSD (Differences in Sex-Development) über die Lebensspanne
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck
ŠPANĚLSKO
Cataluña
BARCELONA
Análisis del sistema de complemento en la preeclampsia grave y el síndrome de Hellp como diana terapéutica
Fundación Instituto de Investigación contra la Leucemia Josep Carreras
BET: Barcelona Endothelium Team
ŠPANĚLSKO
Cataluña
BARCELONA
Disfunción cardíaca y remodelación en pacientes con preeclampsia regulada por ambiente antiangiogénico: enfoque clínico y experimental
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Grupo de investigación en medicina perinatal y de la mujer
ŠPANĚLSKO
Madrid
MADRID
Mejorando la capacidad diagnóstica y el conocimiento de la patogénesis del síndrome antifosfolipídico primario mediante proteómica y transcriptómica
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
ŠVÝCARSKO
Suisse Alémanique
BERN
Association Between Preeclampsia, Antiphospholipid Syndrome and Postpartum Pulmonary Artery Pressure, Systemic Arterial Pressure and Cardiovascular Function
Universitätsspital Inselspital
University Hospital Inselspital
ŠVÝCARSKO
Suisse Alémanique
ZÜRICH
Does Preeclampsia Affect Blood Loss During a Caesarean Procedure
UniversitätsSpital Zürich
Institut für Anästhesiologie
ŠVÝCARSKO
Suisse Romande
LAUSANNE
Improving Cleft Lip/Palate management of care through genomic medicine
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
ŠVÝCARSKO
Suisse Romande
LAUSANNE
The Neuroendocrine Control of Human Reproduction II
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
Liver Disease in Pregnancy
King's College London
King's College London Headquarters
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Identifying predictors of reversible congenital hypogonadotropic hypogonadism
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Molecular Basis of Pregnancy Complications in the Antiphospholipid Syndrome
Institution: Information not provided - US
FRANCIE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCIE
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Etude de l'intérêt de la cryoconservation de cortex ovarien chez les filles atteintes d'un syndrome de Turner: recherche de critères cliniques et hormonaux de sélection des patientes et corrélations caryotypiques
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
NĚMECKO
Niedersachsen
HANNOVER
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
NĚMECKO
Sachsen
DRESDEN
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
MAĎARSKO
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITÁLIE
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
ŠVÝCARSKO
Suisse Alémanique
BERN
SF1next - Understanding the clinical and genetic complexity of human steroidogenic factor 1 (SF-1/NR5A1) variants in sex and steroid biology
Inselspital Universitätsspital
Pädiatrische Endokrinologie und Diabetologie
SPOJENÉ STÁTY
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
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US
KANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
FRANCIE
GRAND-EST
STRASBOURG
Le syndrome de Bardet-Bield: identification de nouveaux gènes et caractérisation biologique d'un nouveau gène (BBS10)
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCIE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
FRANCIE
NOUVELLE AQUITAINE
PESSAC
Insuffisance surrénalienne : recherche clinique
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne
FRANCIE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
FRANCIE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Necdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome
Parc scientifique et technologiques de Luminy
INMED -Institut de Neurobiologie de la Méditerranée - UMR1249
NĚMECKO
Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
NĚMECKO
Niedersachsen
GÖTTINGEN
Untersuchungen zur Pathogenese des Kabuki Syndroms, insbesondere im Hinblick auf eine mögliche gemeinsame Pathogenese zum CHARGE Syndrom
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
ITÁLIE
FRIULI VENEZIA GIULIA
TRIESTE
miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITÁLIE
LAZIO
FIUMICINO
La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
ITÁLIE
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITÁLIE
LOMBARDIA
CUSANO MILANINO
Trasferimento delle nuove tecnologie nella diagnosi corrente di malattie genetiche rare a meccanismi eziopatogenetici multipli
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
ŠPANĚLSKO
Cataluña
ESPLUGUES DE LLOBREGAT
El microbioma intestinal como diana terapéutica en el síndrome de Prader-Willi: efectos metabólicos y en el comportamiento de los pacientes
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
ŠPANĚLSKO
Cataluña
SABADELL
Efecto de la estimulación de la propiocepción profunda sobre los trastornos del sueño, el comportamiento y la conectividad cerebral en pacientes con síndrome de Prader-Willi
Parc Taulí Hospital Universitari
Fundació Parc Taulí - Institut Universitari UAB
ŠVÉDSKO
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
ŠVÉDSKO
Region Örebro län
ÖREBRO
Kognitiv hörselvetenskapsstudie om Ushers syndrome, Alströms syndrome, CHARGE och andra syndromala hörselnedsättningar.
Örebro Universitetssjukhus
Örebro University Hospital
SPOJENÉ KRÁLOVSTVÍ
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - UK
Institution: Information not provided - UK
SPOJENÉ KRÁLOVSTVÍ
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
The regulation of pubertal onset and reproductive development
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Ocular complications of CHARGE Syndrome: The role of Sox11
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Stimulating Retina Regeneration from Muller Cells in Progressive Retinal Degenerations
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Structural basis of BBSome-mediated ciliary exit
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - US
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Molecular underpinnings of Prader-Willi syndrome
Institution: Information not provided - US
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US
Imprinted snoRNA loci and circadian entrainment
Institution: Information not provided - US
FRANCIE
ILE-DE-FRANCE
PARIS
Evolution de l'impact psychosocial de l'annonce diagnostique du syndrome de Rokitansky: EIPSAMRKH5
Hôpital Necker-Enfants Malades
Service d'endocrinologie, gynécologie et diabétologie pédiatrique
NĚMECKO
Baden-Württemberg
TÜBINGEN
Analyse der Auswirkungen des MRKH-Syndroms auf die körperliche, soziale und psychische Gesundheit
Universitäts-Frauenklinik Tübingen
Frauenklinik
NĚMECKO
Baden-Württemberg
TÜBINGEN
Untersuchung des histologischen und immunhistochemischen Aufbaus der Uterusrudimente von MRKH-Patientinnen
Universitäts-Frauenklinik Tübingen
Frauenklinik
NĚMECKO
Baden-Württemberg
TÜBINGEN
Analyse der Auswirkungen des MRKH-Syndroms auf die körperliche, soziale und psychische Gesundheit
ViTa-Gebäude Talklinikum
Abteilung Psychosomatische Medizin und Psychotherapie am Universitätsklinikum Tübingen
ŠPANĚLSKO
Cataluña
ESPLUGUES DE LLOBREGAT
M.BRAIN: Organoides de cerebro para síndromes relacionados con MAGEL2
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
SPOJENÉ KRÁLOVSTVÍ
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
Multicentrické výzkumné projekty
- University College Cork
- UNIVERSITY COLLEGE CORK, NATIONAL UNIVERSITY OF IRELAND
- Nottingham Health Science Partners
- Clinical Chemistry Division
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- University of Trento
- Chromatin & Epigenetics Laboratory
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
- Institution: Information not provided - US
IRSKO
County Cork
CORK
IMPROvED: IMproved Pregnancy Outcomes by Early Detection; personalized medicine for pregnant women: novel metabolomic and proteomic biomarkers to detect pre-eclampsia and improve outcome
SPOJENÉ KRÁLOVSTVÍ
Nottinghamshire
NOTTINGHAM
INTERPREGGEN: Genetic studies of pre-eclampsia in Central Asian and European populations
NĚMECKO
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
NĚMECKO
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
NĚMECKO
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITÁLIE
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
ITÁLIE
TRENTINO ALTO ADIGE
POVO
Chrom_rare: Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions
SPOJENÉ KRÁLOVSTVÍ
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
SPOJENÉ KRÁLOVSTVÍ
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
SPOJENÉ STÁTY
Washington
ADDRESS: NOT PROVIDED - US