Orphanet: Pesquisa por doença/gene
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Financiado por um membro do IRDiRC =

Projetos de investigação

CANADA

Alberta
EDMONTON

Financiado por um membro do IRDiRCMolecular mechanisms of organelle inheritance
University of Alberta
Department of Cell Biology

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

Financiado por um membro do IRDiRCThe Peroxisome Biogenesis Disorders: From Bench to Bedside
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Medical Genetics - Génétique Médicale

CANADA

Québec
MONTRÉAL

Financiado por um membro do IRDiRCGetting Ready for Vision Therapy in Peroxisome Biogenesis Disorders
The Research Institute of the McGill University Health Centre

CANADA

Québec
MONTRÉAL

Longitudinal Natural History Study of Patients with Peroxisome Biogenesis Disorders (PBD)
The Research Institute of the McGill University Health Centre

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPeroxisome biogenesis disorders (pbds)
Institution: Information not provided - US

ALEMANHA

Niedersachsen
GÖTTINGEN

CANADA

Québec
MONTRÉAL

Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

FRANCA

NORMANDIE
ROUEN

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ESPANHA

Madrid
MADRID

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUECIA

Region Stockholm
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUICA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Projetos de investigação multicêntricos