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Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

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

ITALIA

LAZIO
ROMA

SVEZIA

Region Stockholm
STOCKHOLM

Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna
Department of Clinical Genetics (Klinisk genetik)

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

SPAGNA

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

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
BARCELONA

SPAGNA

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

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCIdentification 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCFunctional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

ITALIA

LIGURIA
GENOVA

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCTranscriptomic and secretomic profiles after extended culture of human euploid and chromosome 21 aneuploid embryos
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

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

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

SPAGNA

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCDetection 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

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

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

SVIZZERA

Suisse Romande
GENÈVE

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

BELGIO

VLAAMS BRABANT
LEUVEN

Finanziato da un ente associato a IRDiRCIdentification of therapies targeting lipid metabolism & myelination for Charcot-Marie-Tooth disease type 1A using patient derived Schwann cells
UZ Leuven - Campus Gasthuisberg
Ludo Van Den Bosch Lab- VIB-KU Leuven Center for Brain & Disease Research

CANADA

Ontario
TORONTO

FRANCIA

ILE-DE-FRANCE
PARIS

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCCMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
Université de médecine Aix-Marseille Université
Thérapie des Maladies Génétiques (EA 1263)

ITALIA

LIGURIA
GENOVA

Finanziato da un ente associato a IRDiRCStudio in vitro di mutazioni nelle cellule di Schwann: dalla patogenesi alla terapia
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

NORVEGIA

Østlandet
SIGGERUD

Linguistic skills in children and adolescents with 5p-syndrome
Frambu kompetansesenter for sjeldne diagnoser

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCharcot-marie-tooth (cmt) 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 IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFolding; misfolding; and function of pmp22
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

UNGHERIA

Közép-Magyarország
BUDAPEST

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

Progetti di ricerca multicentrici