Orphanet: Search by disease/gene
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Funded by an IRDiRC member = Member of a ERN =

Research projects

GERMANY

Baden-Württemberg
TÜBINGEN

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

BELGIUM

VLAAMS BRABANT
LEUVEN

Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery - BE
UZ Leuven - Campus Gasthuisberg
Dienst Gynaecologie en Verloskunde / Clinical Department of Obstetrics and Gynaecology

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberThe MIcroRnas and Congenital Lung Anomalies program: MIRACLA
University of Alberta
Department of Medical Genetics

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition 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

UNITED STATES

South Dakota
SIOUX FALLS

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Genetics and molecular bases of oesophageal atresia
Institution: Information not provided - FR

GERMANY

Baden-Württemberg
FREIBURG

Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Nordrhein-Westfalen
BONN

Genetic causes of esophageal atresia
Universitäts-Kinderklinik Bonn
Abteilung für Neonatologie

GERMANY

Rheinland-Pfalz
MAINZ

TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie

SWEDEN

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

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

GERMANY

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

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberBiomedical 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

SPAIN

Galicia
VIGO

Funded by an IRDiRC memberMolecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

SWEDEN

Region Stockholm
STOCKHOLM

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

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCilium-associated structures in rod cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

Multicentric Research projects