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30 Result(s)

Funded by an IRDiRC member =

Research projects

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

ALSACE
ILLKIRCH-GRAFFENSTADEN

Targeted high-throughput sequencing sequencing diagnostic strategy for autistim spectrum disorders with or without intellectual disability
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

NORD-PAS-DE-CALAIS
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

ITALY

LOMBARDIA
PAVIA

High resolution array-CGH and gene expression analyses in autism spectrum disorders
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

ITALY

TOSCANA
SIENA

Inborn disorders of purine metabolism: investigation in patients of pediatric age and neonatal screening by means of dried blood spots
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberStudy of pathways involved in autism spectrum disorders: functional consequences of genetic and epigenetic variants
Universitat Pompeu Fabra. Campus del Mar
Unidad de Investigación en Genética

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberWhole exome sequencing for the study of 30 children with developmental delay or moderate to severe
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

UNITED KINGDOM

Oxfordshire
BEGBROKE

Multicentric Research projects