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Funded by an IRDiRC member =

Research projects

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

CANADA

Ontario
TORONTO

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Influence of petri dish plastics on regulation of genome expression during AMP in mice
CHU Paris Centre - Hôpital Cochin, Site Port-Royal
Laboratoire de Biologie de la Reproduction

FRANCE

OCCITANIE
MONTPELLIER

GERMANY

Niedersachsen
GÖTTINGEN

GERMANY

Nordrhein-Westfalen
AACHEN

GERMANY

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

ITALY

CAMPANIA
CASERTA

Funded by an IRDiRC memberMolecular bases of the Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome
Università degli Studi della Campania
Dipartimento di Scienze Ambientali

ITALY

CAMPANIA
NAPOLI

Pathogenesis of faciogenital dysplasia: the role of FGD1 in regulation of membrane transport
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
S.S. di Genetica Medica

ITALY

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALY

LOMBARDIA
MILANO

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

NETHERLANDS

Noord-Holland
AMSTERDAM

Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

SPAIN

Andalucía
SEVILLA

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

SWEDEN

Stockholms läns landsting
HUDDINGE

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

UNITED KINGDOM

Cambridgeshire
HINXTON

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPrdm16 function in neural development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInborn errors of cholesterol synthesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian developmental genetics and stem cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 5: characterization of social phenotype
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Rasopathies and fetal / perinatal deaths and implications for prenatal diagnosis
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberPathophysiology of the Costello Syndrome: study in mice and cell models
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Institution: Information not provided - JP

SPAIN

País Vasco
VITORIA-GASTEIZ

Funded by an IRDiRC memberImprinting disorders: low grade mosaicism or new candidate genes? - ES
HUA - Hospital Universitario Araba. Sede Txagorritxu
Laboratorio de Genética Molecular

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects