Parceria : Académicos = 
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, Investidores financeiros = 
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- ALEMANHA
- Baden-Württemberg
- HEIDELBERG
- NGFN plus : IG German Mental Retardation Network - MR Centre Heidelberg (Project 9): Mutation screenings and functional characterisation on candidate genes
- Universitätsklinikum Heidelberg
- Abteilung Molekulare Humangenetik
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- ALEMANHA
- Baden-Württemberg
- TÜBINGEN
- NGFN plus : IG German Mental Retardation Network - MR Zentrum Tübingen (project 3): High resolution SNP microarrays for identification of genome imbalances and segmental UPD's. Molecular (MLPA, qPCR) and molecular cytogenetic (FISH) techniques for validation of Copy Number Variants.
- Universitätsklinikum Tübingen
- Medizinische Genetik Tübingen
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- NGFN plus : IG German Mental Retardation Network (coordination)
- Friedrich-Alexander-Universität Erlangen-Nürnberg
- Humangenetisches Institut
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- NGFN plus : IG German Mental Retardation Network - MR Centre Erlangen (Project 1): Identification, validation and functional characterization of disease causing genes and proteines in patients with mental retardation of unkown cause
- Friedrich-Alexander-Universität Erlangen-Nürnberg
- Humangenetisches Institut
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- BNE: BrainNet Europe II: European brain tissue bank - Network for clinical neuroscience and basic research (coordination)
- Ludwig-Maximilians-Universität München
- Zentrum für Neuropathologie und Prionforschung
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- NGFN plus : IG German Mental Retardation Network - MR Centre Munich (project4): Genome-wide hybridization of genomic DNA with oligonucleotide-based arrays
- Technische Universität München
- Institut für Humangenetik
- Mais detalhes
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- Search and functional characterisation of genes in X-linked and autosomal recessive forms of mental retardation
- Max-Planck-Institut für molekulare Genetik
- Abteilung Human Molecular Genetics
- Mais detalhes
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- NGFN plus : IG German Mental Retardation Network -MR Centre Berlin (Teilprojekt 2): Array CGH for detection of submicroscopic genome imbalances, homozygosity mapping using SNP arrays
- Max-Planck-Institut für molekulare Genetik
- Abteilung Human Molecular Genetics
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- ALEMANHA
- Mecklenburg-Vorpommern
- ROSTOCK
- Biomarker for Hunter Disease (BioHunt): An International, multicentre, epidemiological protocol
- Universitätsklinikum Rostock
- Albrecht-Kossel-Institut für Neurodegeneration
- Mais detalhes
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- ALEMANHA
- Mecklenburg-Vorpommern
- ROSTOCK
- Biomarker for Pompe Disease (BioPompe): An International, multicentre, epidemiological protocol
- Universitätsklinikum Rostock
- Albrecht-Kossel-Institut für Neurodegeneration
- Mais detalhes
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- ALEMANHA
- Nordrhein-Westfalen
- BONN
- NGFN plus : IG German Mental Retardation Network - MR Centre Bonn (Project 5): identification of candidate genes for mental retardation by the detection and analysis of submicroscopic CNCs
- Universität Bonn
- Institut für Humangenetik
- Mais detalhes
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- ALEMANHA
- Nordrhein-Westfalen
- ESSEN
- SKELNET : Chondrocyte specific genes as part of the signaling regulation of chondrocyte differentiation
- Universität Duisburg-Essen
- Abteilung Entwicklungsbiologie
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- ALEMANHA
- Nordrhein-Westfalen
- ESSEN
- NGFN plus : IG German Mental Retardation Network - MR Centre Essen (Project 8): genotype phenotype correlations in patients with mental retardation
- Universitätsklinikum Essen
- Institut für Humangenetik
- Mais detalhes
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- ALEMANHA
- Nordrhein-Westfalen
- MÜNSTER
- NGFN plus : IG German Mental Retardation Network - MR Centre Münster (Project 6): Identification of diseases causing genes in mental retardation
- Universitätsklinikum Münster
- Institut für Humangenetik
- Mais detalhes
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- NGFN plus : IG German Mental Retardation Network - MR Centre Dresden (Project 7): Clinical characterization, molecular karyotyping and gentype phenotype correlations
- Medizinische Fakultät Carl Gustav Carus der TU Dresden
- Institut für Klinische Genetik
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- BELGICA
- OOST-VLAANDEREN
- GENT
- Molecular genetic investigation of apparently balanced translocations in patients with mental retardation and multiple congenital malformations.
- Ghent University Hospital - UZGent
- Center for Medical Genetics Ghent
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- CANADA
- Colombie-Britannique
- VANCOUVER
- FORGE - Finding of Rare Disease Genes in Canada
- University of British Columbia
- Faculty of Medicine
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- Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
- Children's Hospital of Eastern Ontario
- Newborn Screening Ontario
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- CANADA
- Ontario
- OTTAWA, ONTARIO
- Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
- University of Ottawa
- Department of Epidemiology and Community Medicine
- Mais detalhes
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- CANADA
- Ontario
- OTTAWA, ONTARIO
- FORGE - Finding of Rare Disease Genes in Canada
- University of Ottawa
- Faculty of Medicine -
- Mais detalhes
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- FORGE - Finding of Rare Disease Genes in Canada
- Centre hospitalier universitaire Sainte-Justine
- Pédiatrie
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- ESPANHA
- Canarias
- SANTA CRUZ DE TENERIFE
- BURQOL-RD: Social economic burden and health-related quality of life in patients with rare diseases in Europe
- Servicio Canario de la Salud
- Servicio de Evaluación
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- ESPANHA
- Cataluña
- BARCELONA
- CAV-4-MPS: understanding and treating neurodegeneration caused by mucopolysaccharidoses (coordination)
- Universitat de Barcelona. Facultat de Farmàcia
- Departamento de Bioquímica y Biología Molecular
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- ESPANHA
- Comunidad Valenciana
- VALENCIA
- High definition genomic screening of candidate genes for neurodevelopmental disorders
- Hospital Universitario La Fe (Campanar)
- Unidad de Genética y Diagnóstico Prenatal
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- Development of novel DNA diagnostic technologies for the detection of structural chromosomal abnormalities in case of mental retardation (EFT 5467).
- University of Tartu
- The Institute of Molecular and Cell Biology
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- FRANCA
- ILE-DE-FRANCE
- BONDY
- Cryptic anomalies by CGH array in children with mental retardation and ophtalmologic anomalies
- CHU Paris Seine-Saint-Denis - Hôpital Jean Verdier
- Laboratoire de cytogénétique et biologie de la reproduction
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- FRANCA
- ILE-DE-FRANCE
- LE KREMLIN BICETRE
- Pain impact in children affected by lysosomal diseases
- CHU de Bicêtre
- Unité douleur et Soins Palliatifs
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- FRANCA
- ILE-DE-FRANCE
- PARIS
- Identification of the molecular basis for unexplained mental retardation
- CHU Paris - Hôpital Necker - Enfants Malades
- Département de génétique
- Mais detalhes
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- FRANCA
- ILE-DE-FRANCE
- PARIS
- Chromosomic errors and syndromic mental retardations
- CHU Paris - Hôpital Necker - Enfants Malades
- Département de génétique
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- FRANCA
- ILE-DE-FRANCE
- PARIS
- Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
- CHU Paris - Hôpital Necker - Enfants Malades
- Unité fonctionnelle métabolisme
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- FRANCA
- ILE-DE-FRANCE
- PARIS
- Evaluation of diagnosis and treatment protocols and long-term follow-up of errors of metabolism
- CHU Paris - Hôpital Robert Debré
- Service de neurologie pédiatrique et des maladies métaboliques
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- FRANCA
- MIDI-PYRENEES
- TOULOUSE
- Sialidase Neu4: new therapy for lysosomal diseases
- CHU de Toulouse - Hôpital Purpan
- Laboratoire de biochimie
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- HUNGRIA
- Észak-Magyarország
- BUDAPEST
- Molecular prognostic factors in pediatric diseases
- Semmelweis University
- SOTE Pediatric clinic II
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- IRLANDA
- County Dublin
- DUBLIN
- A prospective study on the numbers of Irish Travellers attending the metabolic clinic in Dublin
- Our Lady's Children's Hospital
- National Centre for Medical Genetics
- Mais detalhes
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- Towards aav-mediated gene therapy of hunter syndrome
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
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- Modulation of Cellular Clearance in Lysosomal Storage Disorders
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Mais detalhes
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- Small Molecule-Based Therapies with for Lysosomal Storage Diseases
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Mais detalhes
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- Modifying Lysosomal Enzymes to Improve Secretion and Brain Delivery [SuRE]
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Mais detalhes
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- Molecular characterization of metabolic-genetic diseases
- IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- Laboratorio di Diagnosi Pre-Postnatale Malattie Metaboliche
- Mais detalhes
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- ITALIA
- LOMBARDIA
- CUSANO MILANINO
- Molecular analysis of families cosegregating X-linked mental retardation
- Istituto Auxologico Italiano
- Laboratorio di Biologia Molecolare
- Mais detalhes
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- CNS-directed gene/cell therapy of LSDs
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Mais detalhes
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- Identification of the function of genes muteted in X-linked mental retardation
- Università degli Studi di Milano
- Laboratorio di Farmacologia Molecolare
- Mais detalhes
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- Genetics basis of Mental Retardation
- A.O. Città della Salute e della Scienza di Torino - Ospedale Regina Margherita
- Struttura Semplice di Genetica
- Mais detalhes
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- Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
- IRCCS OASI Maria Santissima
- U.O.C.di Pediatria e Genetica Medica
- Mais detalhes
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- Usefulness of 244K array-cgh in the ascertainment of cryptic chromosomal rearrangements in Mental Retardation and Autism
- IRCCS OASI Maria Santissima
- Laboratorio di Diagnosi Genetica
- Mais detalhes
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- Research on intellectual deficit ethiopathogenesis. Mapping and identification of genes localized on chromosome X using CGH microarrays.
- Institute of mother and child / Instytut Matki i Dziecka
- Department of medical genetics - Zespol Pracowni Genetyki Molekularnej
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- Prognóstico e prevenção em algumas doenças hereditárias existentes na população portuguesa
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- Unidade de Investigação & Desenvolvimento; Departamento de Genética
- Mais detalhes
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- Desenvolvimento de terapias de splicing para doentes afectados por doenças de sobrecarga lisossomal
- CGMJM - Centro de Genética Médica Jacinto Magalhães
- Unidade de Investigação & Desenvolvimento; Departamento de Genética
- Mais detalhes
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- Inter-relações entre os mecanismos patogénicos das Doenças de Sobrecarga Lisosomal e a apresentação de antigénios lipídicos
- Instituto de Biologia Molecular e Celular
- Unidade de Biologia do Lisossoma e do Peroxissoma
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- REINO UNIDO
- Cambridgeshire
- CAMBRIDGE
- EUCLYD: substrate reduction therapy for glycospingolipidoses and mucopolysaccharidoses (WP4)
- Addenbrooke's Hospital
- Lysosomal Disorders Unit
- Mais detalhes
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- REINO UNIDO
- Greater London
- LONDON
- Development of diagnostic methods for lysosomal storage diseases
- UCL Institute of Child Health
- Biochemistry Research Group
- Mais detalhes
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- REINO UNIDO
- Greater Manchester
- MANCHESTER
- MCRN058 (HGT-ELA-042): A Multi-Centre Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Enrolled in the Hunter Outcome Survey (HOS) Receiving Idursulfase Enzyme Replacement Therapy - UK
- St Mary's Hospital
- Manchester Regional Genetics Service, Genetic Medicine, 6th Floor
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- SUICA
- Suisse Alémanique
- SCHWERZENBACH
- NGFN plus : IG German Mental Retardation Network - MR Centre Erlangen (Project 1): Identification, validation and functional characterization of disease causing genes and proteines in patients with mental retardation of unkown cause
- Universität Zürich
- IMG - Institut für Medizinische Genetik
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