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Ricerca per malattia/gene

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29 Risultato/i

    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Austrian Country Node of the Human Variome Project (HVP)
    • Medizinische Universität Innsbruck
    • Sektion Humangenetik
    • Ulteriori dettagli
    • AUSTRIA
    • TIROL
    • INNSBRUCK
    • Austrian registry for inborn errors of metabolism
    • Medizinische Universität Innsbruck
    • Neuropädiatrie, Entwicklungsneurologie und angeborene Stoffwechselstörungen
    • Ulteriori dettagli
    • BELGIO
    • ARRONDISSEMENT BRUSSELS-CAPITAL
    • BRUSSELS
    • Belgian Neuromuscular Disease Registry
    • Cliniques Universitaires UCL de Saint Luc - UCLStLuc
    • Centre de Référence Neuromusculaire UCL St-Luc (adultes & enfants)
    • Ulteriori dettagli
    • BELGIO
    • VLAAMS BRABANT
    • LEUVEN
    • EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation
    • University Hospitals Leuven - Gasthuisberg
    • Department of Human Genetics
    • Ulteriori dettagli
    • CANADA
    • Alberta
    • CALGARY
    • Canadian Neuromuscular Disease Registry
    • University of Calgary
    • Department of Clinical Neurosciences
    • Ulteriori dettagli
    • DANIMARCA
    • Sjćlland
    • COPENHAGEN
    • Mendelian cytogenetics network online database
    • The Panum Institute-University of Copenhagen
    • Department of Cellular and Molecular Medicine
    • Ulteriori dettagli
    • ESTONIA
    • Tartu
    • TARTU
    • Biobank of the Estonian genome center
    • Tartu University Hospital
    • Centre of Genetics - United laboratories
    • Ulteriori dettagli
    • FRANCIA
    • ILE-DE-FRANCE
    • EVRY
    • Human DNA and cell biobank of Genethon - genetic diseases, mainly neuromuscular diseases - part of the EuroBioBank network
    • Généthon
    • Généthon - Banque d'ADN et de cellules
    • Ulteriori dettagli
    • FRANCIA
    • ILE-DE-FRANCE
    • GARCHES
    • French registry of neuromuscular diseases from reference centres
    • GHU Paris Île-de-France Ouest - Hôpital Raymond Poincaré
    • UF Centre de référence des maladies neuromusculaires
    • Ulteriori dettagli
    • FRANCIA
    • ILE-DE-FRANCE
    • PARIS
    • French registry of neuromuscular diseases from reference centres
    • CHU Paris - Hôpital Necker - Enfants Malades
    • Consultation myologie
    • Ulteriori dettagli
    • GERMANIA
    • Baden-Württemberg
    • REUTLINGEN
    • RAMEDIS : Rare Metabolic Diseases Database
    • Klinikum am Steinenberg
    • Klinik für Kinder- und Jugendmedizin
    • Ulteriori dettagli
    • GERMANIA
    • Baden-Württemberg
    • REUTLINGEN
    • RAMEDIS : Rare Metabolic Diseases mutation Database
    • Klinikum am Steinenberg
    • Klinik für Kinder- und Jugendmedizin
    • Ulteriori dettagli
    • GERMANIA
    • Nordrhein-Westfalen
    • AACHEN
    • Brain-net - brain tissue bank Aachen (neurotrauma)
    • Universitätsklinikum Aachen
    • Institut für Neuropathologie
    • Ulteriori dettagli
    • ITALIA
    • CAMPANIA
    • NAPOLI
    • Biobanca genetica di mutazioni umane napoli
    • Seconda Universitŕ degli Studi di Napoli
    • Servizio di Cardiomiologia e Genetica Medica
    • Ulteriori dettagli
    • ITALIA
    • LAZIO
    • ROMA
    • Registro Telethon-UILDM per le CMD (Distrofie Muscolari Congenite) - afferisce al network europeo Treat-NMD
    • Policlinico Universitario "A. Gemelli"
    • U.O.C. Neuropsichiatria Infantile
    • Ulteriori dettagli
    • ITALIA
    • VENETO
    • PADOVA
    • Registro Regionale per la prevenzione e l'epidemiologia delle malattie neuromuscolari
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • U.O. di Neuropatologia e Psicopatologia
    • Ulteriori dettagli
    • ITALIA
    • VENETO
    • PADOVA
    • Banca di tessuti e DNA neuromuscolare (NMTB) (EuroBioBank partner)
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • U.O. di Neuropatologia e Psicopatologia
    • Ulteriori dettagli
    • MAROCCO
    • Rabat
    • RABAT
    • MoHuMuDa : Moroccan Human Mutation Database
    • Institut National d'Hygične
    • Département de génétique médicale
    • Ulteriori dettagli
    • PAESI BASSI
    • Utrecht
    • UTRECHT
    • DDRMD - Dutch Diagnosis Registration Metabolic Diseases
    • UMC Utrecht - Universitair Medisch Centrum Utrecht
    • Afdeling Metabole Ziekten
    • Ulteriori dettagli
    • PAESI BASSI
    • Zuid-Holland
    • LEIDEN
    • LOVD-LMD: FKTN gene (fukutin) variant database
    • LUMC - Leids Universitair Medisch Centrum
    • Leiden Genome Technology Center (LGTC) - Afdeling Humane Genetica
    • Ulteriori dettagli
    • REGNO UNITO; GRAN BRETAGNA
    • Greater London
    • LONDON
    • Mutation database for Congenital Muscular Dystrophies (Genes: LAMA2, SEPN1, FKRP, POMT1, POMT2, POMGnT1, Fukutin, LARGE)
    • Guy's Hospital
    • Molecular Genetics (DNA) Laboratory (part of the SE Thames Regional Genetics Service)
    • Ulteriori dettagli
    • REGNO UNITO; GRAN BRETAGNA
    • Greater London
    • LONDON
    • Mutation database for Congenital Muscular Dystrophies (Genes: LAMA2, SEPN1, FKRP, POMT1, POMT2, POMGnT1, Fukutin, LARGE)
    • UCL Institute of Child Health
    • Dubowitz Neuromuscular Centre
    • Ulteriori dettagli
    • REGNO UNITO; GRAN BRETAGNA
    • Greater Manchester
    • MANCHESTER
    • DMuDB: Diagnostic Mutation Database
    • St Mary's Hospital
    • National Genetics Reference Laboratory - Manchester
    • Ulteriori dettagli
    • SLOVENIA
    • SLOVENIA
    • LJUBLJANA
    • Human tissue biobank of Neuromuscular diseases (EuroBioBank partner)
    • University Medical Center Ljubljana
    • Institute of Anatomy
    • Ulteriori dettagli
    • SPAGNA
    • Madrid
    • CANTOBLANCO
    • Spanish registry of metabolic hereditary diseases
    • Universidad Autónoma de Madrid. Facultad de Ciencias
    • Centro de Diagnóstico de Enfermedades Moleculares
    • Ulteriori dettagli
    • SPAGNA
    • Madrid
    • MADRID
    • Registry of the Spanish Collaborative Study of Congenital Malformations (ECEMC)
    • Centro de Investigación sobre Anomalías Congénitas
    • Ulteriori dettagli
    • STATI UNITI
    • Georgia
    • ATLANTA
    • CMDIR: congenital muscular dystrophy international registry
    • Emory University
    • Woodruff Health Sciences Center
    • Ulteriori dettagli
    • STATI UNITI
    • Kansas
    • OLATHE
    • UNGHERIA
    • Közép-Magyarország
    • BUDAPEST
    • DNA biobank of the Department of Molecular Genetics and Diagnostics, National Institute of Environmental Health (NIEH) (EuroBioBank partner)
    • National Institute of Environmental Health
    • Department of Molecular Genetics and Diagnostics
    • Ulteriori dettagli