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Terminated research projects = Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

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

GERMANY

Baden-Württemberg
FREIBURG

Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations
Institut für Humangenetik am Universitätsklinikum Freiburg
Institut für Humangenetik

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SWEDEN

Region Stockholm
SOLNA

Chromosomal anomaly
Karolinska Universitetssjukhuset
Department of Clinical Genetics

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ITALY

LAZIO
ROMA

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberDetection of structural genetic factors modifying the phenotype in a population with congenital defects
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

SWITZERLAND

Suisse Romande
GENÈVE

The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

FRANCE

PAYS DE LA LOIRE
NANTES

GERMANY

Baden-Württemberg
HEIDELBERG

Clinical Phenotyping of Individuals with USP7-Related Diseases
Institut für Humangenetik am Universitätsklinikum Heidelberg
Abteilung Humangenetik

HUNGARY

Közép-Magyarország
BUDAPEST

Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

NORWAY

Østlandet
SIGGERUD

Språklige ferdigheter hos barn og unge med 5p-syndrom
Frambu kompetansesenter for sjeldne diagnoser

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 5: characterization of social phenotype
Institution: Information not provided - US

Multicentric Research projects