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Progetti di ricerca

CANADA

Québec
MONTRÉAL

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCSindrome di DiGeorge: approcci terapeutici nel modello murino
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALIA

LAZIO
ROMA

Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALIA

LAZIO
ROMA

Mutazione JAG1 in un paziente con delezione 22q11.2 e tetralogia di Fallot
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

DANIMARCA

Nordjylland
AALBORG

FRANCIA

ILE-DE-FRANCE
VILLEJUIF

Finanziato da un ente associato a IRDiRCTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

TURCHIA

TURKEY
ANKARA

CRANIRARE: an integrated clinical and scientific approach for craniofacial malformations (partner No. 5) - TR
Hacettepe University Faculty of Medicine
Chemical Engineering and Bioengineering Departments

TURCHIA

TURKEY
ANKARA

TURCHIA

TURKEY
ISTANBUL

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
ULM

Finanziato da un ente associato a IRDiRCEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation

GERMANIA

Rheinland-Pfalz
MAINZ

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

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
HINXTON

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

SVIZZERA

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

FINLANDIA

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
New Children's Hospital
Rare Diseases Unit

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Detection of chromosomal abnormalities and mutations by high throughput sequencing
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

Finanziato da un ente associato a 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

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCPID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

GERMANIA

Berlin
BERLIN

Finanziato da un ente associato a IRDiRCPID-NET: Primary immunodeficiencies predisposing to severe bacterial infections
Otto-Heubner-Centrum für Kinder- und Jugendmedizin
Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie

GERMANIA

Niedersachsen
HANNOVER

GERMANIA

Thüringen
JENA

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCProgramma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Finanziato da un ente associato a IRDiRCNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCMolecular characterization in patients with diagnosis of primary immunodeficiency (PID) through whole exome sequencing and its functional impact
Hospital Universitario 12 de Octubre
Servicio de Inmunodeficiencias, Lactantes y Pediatría General

SVEZIA

Stockholms läns landsting
HUDDINGE

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

SVEZIA

Stockholms läns landsting
STOCKHOLM

Chromosomal anomaly
Karolinska Universitetsjukhuset - Klinisk Genetik
Clinical Genetics (Klinisk genetik)

Progetti di ricerca multicentrici