Orphanet: Ricerca per malattia/gene
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Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

FRANCIA

AUVERGNE-RHONE-ALPES
BRON

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCIA

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

Finanziato da un ente associato a IRDiRCGene therapy for Wolfram Syndrome
Institution: Information not provided - FR

FRANCIA

ILE-DE-FRANCE
PARIS

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

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

REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

STATI UNITI

Maryland
BETHESDA

Finanziato da un ente associato a IRDiRCIdentification of small molecule ER modulators for wolfram syndrome
National Center for Advancing Translational Sciences (NCATS-NIH)
Division of Preclinical Innovation

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAGNA

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

SPAGNA

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares