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Proyectos de investigación terminados = 
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Proyectos de investigación
ALEMANIA
Thüringen
JENA
ChromoSomics - Database: Collection and characterisation of cases with a small supernumerary marker chomosome with the goal of a genotype phenotype correlation
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik
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
Improving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SUECIA
Region Stockholm
STOCKHOLM
Chromosomal anomaly
Karolinska Universitetssjukhuset - Solna
Department of Clinical Genetics (Klinisk genetik)
ALEMANIA
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAÑA
Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAÑA
Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAÑA
Cataluña
BARCELONA
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAÑA
Cataluña
L'HOSPITALET DE LLOBREGAT
Red interhospitalaria catalana de variantes genéticas para mejorar el diagnóstico genético en enfermedades raras
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAÑA
Madrid
MADRID
Identificación de nuevos genes causantes de enfermedades raras en pacientes pediátricos, identificación de dianas farmacológicas, y descubrimiento de fármacos, los pasos para una medicina personalizada
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
CANADA
Ontario
TORONTO
Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto
Department of Molecular Genetics
ESPAÑA
Comunidad Valenciana
VALENCIA
Perfiles transcriptómicos y secretómicos tras cultivo extendido de embriones humanos euploides y aneuploides para el cromosoma 21
Hospital Universitario y Politécnico La Fe
Fundación para la Investigación del Hospital Universitari La Fe
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders
Institution: Information not provided - FR
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
Targeting aberrant Cl- homeostasis and GABAergic transmission in Down syndrome to design innovative therapeutic approaches
Istituto Italiano di Tecnologia
Dipartimento di Neuroscience e Tecnologie del Cervello
ITALIA
PUGLIA
BARI
Genetic and metabolic regulation of the cell redox state in down syndrome:role of the ubiquitin-proteasome system, of mitochondrial metabolism, of mi RNAs, and protective effect of natural anti-oxidant compounds
Consiglio Nazionale delle Ricerche
Istituto di Biomembrane e Bioenergetica
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
ESPAÑA
Cataluña
BARCELONA
Detección de factores genéticos estructurales modificadores del fenotipo en una población con defectos congénitos
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neurophysiological biomarkers of cognition in dup15 syndrome: from mouse models to patients
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
ITALIA
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
ITALIA
LOMBARDIA
MILANO
Neuronal dysfunctions underlying Phelan-McDermid syndrome and theirs rescue by genetic and pharmacological modulation of mGlu5 signaling
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze
SUIZA
Suisse Romande
GENÈVE
The Swiss 22q11DS longitudinal cohort: understanding psychosis proneness through negative symptoms
UNIGE Université de Genève
Service Médico-Pédagogique Département de Psychiatrie
BELGICA
VLAAMS BRABANT
LEUVEN
Identification 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
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Charcot-marie-tooth (cmt) disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Identification of activators of pmp22 expression for treatment of cmt1a
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Folding; misfolding; and function of pmp22
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
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
CMTHER: 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)
HUNGRIA
Közép-Magyarország
BUDAPEST
Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALIA
LIGURIA
GENOVA
An in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili
ITALIA
LOMBARDIA
ROZZANO
Functional dissection of the molecular underpinnings of 7q11.23 syndromes: bridging pathogenic insight to drug discovery at single cell resolution
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
NORUEGA
Østlandet
SIGGERUD
School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study
Frambu kompetansesenter for sjeldne diagnoser
NORUEGA
Østlandet
SIGGERUD
Linguistic skills in children and adolescents with 5p-syndrome
Frambu kompetansesenter for sjeldne diagnoser
SUIZA
Suisse Romande
FRIBOURG
The Differential Roles of Positive Emotions and Emotion Regulation for Socio-Emotional Processes in Developmental Disabilities: Insights for Future Interventions
Universität Freiburg
Heilpädagogisches Institut
Proyectos de investigación multicéntricos
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Universitätsklinikum Aachen
- Institut für Humangenetik
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
ALEMANIA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ALEMANIA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network
ITALIA
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALIA
LOMBARDIA
MILANO