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25 Result(s)

Funded by an IRDiRC member =

Research projects

GERMANY

Niedersachsen
GÖTTINGEN

GERMANY

Rheinland-Pfalz
MAINZ

Risk factors for congenital anorectal malformations
Universitätsmedizin Mainz
CURE-Net Register

ITALY

CAMPANIA
NAPOLI

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

ITALY

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesů
U.O.C. Laboratorio 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 Gesů - 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 Gesů - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Funded by an IRDiRC memberAn integrated strategy to functionally dissect the genetic and epigenetic mechanisms underlying Kabuki Syndrome
IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
S.C. di Genetica Medica

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Identification of novel autosomal genes causing mental retardation
Universität Zürich
Institut für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
HINXTON

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

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

UNITED KINGDOM

Lothian
EDINBURGH

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

Multicentric Research projects