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46 Resultado(s)

Ordenados por

Financiado por un miembro del IRDiRC = Miembro de una ERN =

Proyectos de investigación

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por un miembro del IRDiRCMolecular genetics of heritable human disorders
Institution: Information not provided - US

ITALIA

CAMPANIA
NAPOLI

Financiado por un miembro del IRDiRCUnveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Dipartimento di Medicina molecolare e Biotecnologie Mediche

ITALIA

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

CANADA

Ontario
OTTAWA

Financiado por un miembro del 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
TORONTO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por un miembro del IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por un miembro del IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del 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

FRANCIA

PAYS DE LA LOIRE
NANTES

Financiado por un miembro del 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

ITALIA

LAZIO
ROMA

Financiado por un miembro del IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

JAPON

JAPAN
TOKYO

Financiado por un miembro del IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SUECIA

Region Stockholm
STOCKHOLM

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

SUIZA

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

BELGICA

OOST-VLAANDEREN
GENT

Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

FINLANDIA

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

REINO UNIDO (EL)

Cambridgeshire
CAMBRIDGE

Financiado por un miembro del IRDiRCNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

SUECIA

Region Stockholm
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

SUIZA

Suisse Alémanique
SCHLIEREN

Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy

SUIZA

Suisse Alémanique
SCHLIEREN

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy

SUIZA

Suisse Alémanique
ZÜRICH

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie

ITALIA

LAZIO
ROMA

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

Proyectos de investigación multicéntricos