Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

CANADA

Ontario
TORONTO

CANADA

Ontario
TORONTO

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberBecoming an adult with a developmental anomaly: barriers and facilitators
Université Montpellier II
Santé et Éducation, Situation de Handicap (EA4614)

ITALY

LAZIO
ROMA

Williams syndrome: study of cardiac function and cardiorespiratory efficiency
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
U.O.C. di Cardiologia Pediatrica

ITALY

LOMBARDIA
MILANO

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Genotype-fenotype correlations in Williams-Beuren syndrome individuals through the analysis of global gene expression changes by microarray toools
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
S.C. di Genetica Medica

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Functional characterization of genes involved in Williams Syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
S.C. di Genetica Medica

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberStudy of brain activity and connectivity in Social Anxiety Disorder: search for new endophenotypes through comparison with Williams-Beuren syndrome. TASWI study
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en bases biológicas del trastorno psíquico y psiquiatria nuclear

UNITED STATES

Massachusetts
BOSTON

SPAIN

Comunidad Valenciana
VALENCIA

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

BELGIUM

VLAAMS BRABANT
LEUVEN

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - BE
University Hospitals Leuven - Gasthuisberg
Pediatric Nephrology and Organ transplantation

FRANCE

ILE-DE-FRANCE
GENNEVILLIERS

Funded by an IRDiRC memberAnnouncement of a severe renal fetal pathology detected during pregnancy
Université de Cergy-Pontoise
Ecole, Mutations, Apprentissages

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LOMBARDIA
RANICA

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - IT
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - ES
Centro de Investigaciones Biológicas (CSIC)
Departamento de Medicina Celular y Molecular

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

GERMANY

Thüringen
JENA

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberEarly preganncy loss: genetic causes and recurrence risk
Hospital Clínic de Barcelona
Instituto Clínic de Ginecología, Obstetricia y Neonatología

SWEDEN

Stockholms läns landsting
STOCKHOLM

Chromosomal anomaly
Karolinska University Hospital - Clinical Genetics
Clinical Genetics (Klinisk genetik)

Multicentric Research projects