Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

BELGIUM

VLAAMS BRABANT
LEUVEN

Peristeal celtherapy as new treatment for pseudartrosis in children with NF1
University Hospitals Leuven - Gasthuisberg
Clinical Genetics Unit

BELGIUM

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
University Hospitals Leuven - Gasthuisberg
Clinical Genetics Unit

FINLAND

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Department of Cell Biology and Anatomy

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin
Service de génétique et biologie moléculaires

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: Neurobiology and neurocognitive function in mouse models of RASpathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberGeNeRARe: German Network for RASopathies (coordination)
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik

ITALY

LAZIO
ROMA

Mechanisms of variable expressivity in the Neurofibromatosis type1
Azienda Ospedaliera S. Camillo-Forlanini - Ospedale San Camillo
U.O.C. Laboratorio di Genetica Medica - Dipartimento di Medicina Sperimentale

ITALY

LAZIO
ROMA

Correlation between cardiac phenotype and gene mutations that regulate the cascade RAS/ MAPK syndromes neurocardiofaciocutanee
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
U.O.C. di Cardiologia Pediatrica

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberPeripheral nerve tumors in Neurofibromatosis 1: susceptibility, origin, progression and malignancy
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Diagnóstico Genético del Cáncer Hereditario

SPAIN

Cataluña
BARCELONA

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

FINLAND

Finland
HELSINKI

Molecular genetics of epilepsy syndromes
Folkhälsan
The Folkhälsan Institute of Genetics

ITALY

LOMBARDIA
MILANO

Functional study of epileptogenic na+ channel mutations in transfected neurons and animal models
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Dipartimento di Neurofisiopatologia ed Epilettologia Diagnostica

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

ITALY

CAMPANIA
NAPOLI

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

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

Multicentric Research projects