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Financé par un membre IRDiRC = Membre d'un ERN =

Projets de recherche

ALLEMAGNE

Sachsen-Anhalt
MAGDEBURG

Financé par un membre IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ESPAGNE

Madrid
MADRID

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ROYAUME-UNI

Cambridgeshire
HINXTON

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

ETATS-UNIS

Louisiana
NEW ORLEANS

ETATS-UNIS

South Dakota
SIOUX FALLS

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ALLEMAGNE

Rheinland-Pfalz
MAINZ

Therapeutic strategies for preclinical treatment of L1 syndrome
Universitätsmedizin Mainz
Klinik für Anästhesiologie

ALLEMAGNE

Sachsen
DRESDEN

Genetics of cortical malformations
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ESPAGNE

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

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCDeciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCPathological mechanisms of human cerebeller malformations
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDE

Finland
HELSINKI

FRANCE

ILE-DE-FRANCE
PARIS

Financé par un membre IRDiRCSCD-Mec: Mécanismes développementaux des anomalies structurelles cérébelleuses
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

ITALIE

LOMBARDIA
MILANO

Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale

SUEDE

Region Stockholm
STOCKHOLM

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

ALLEMAGNE

Sachsen
DRESDEN

Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ESPAGNE

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetics of brain development
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCFetal tissue engineering to treat spina bifida before birth
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCCadherin interactions in ectodermal derivative fate specification
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCFolate-p53 interactions in neural tube defects
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetic factors in birth defects
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
GARCHES

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financé par un membre IRDiRCHETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

JAPON

JAPAN
HYOGO

Financé par un membre IRDiRCDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

BELGIQUE

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

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCThe contribution folate and vitamin b12 genes to disease.
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Projets de recherche multicentriques