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Projekt badawczy

NIEMCY
Niedersachsen
GÖTTINGEN
Neurodegenerative Erkrankungen mit Manifestation im Kindes- und Jugendalter ('kindliche Demenzen') - Ursachenklärung und Therapieansätze
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ZJEDNOCZONE KRÓLESTWO
Cambridgeshire
CAMBRIDGE
Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

HISZPANIA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

FRANCJA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCJA
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

WŁOCHY
CAMPANIA
NAPOLI
Programma Telethon per le malattie senza diagnosi
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPONIA
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPONIA
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPONIA
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

KANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

KANADA
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

FRANCJA
HAUTS-DE-FRANCE
LILLE
ID2STOP Orphan: Technologie de Sélection Individualisée de Médicaments pour les patients orphelins
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

WŁOCHY
LIGURIA
GENOVA
Nuove tecnologie e nuove strategie per lo screening neonatale di massa
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

HISZPANIA
Galicia
SANTIAGO DE COMPOSTELA
Uso de la plataforma nCounter de Nanostring para detectar mutaciones que afectan la expresión génica en pacientes con enfermedades raras no diagnosticadas
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas

SZWECJA
Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SZWAJCARIA
Suisse Romande
LAUSANNE
Etude rétrospective portant sur les patients adultes avec Erreurs Innées du Métabolisme en Suisse Romande
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
Wieloośrodkowy projekt badawczy
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- St James's University Hospital
- Department of Biochemical Genetics

NIEMCY
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network

NIEMCY
Bayern
MÜNCHEN
BNE: BrainNet Europe II: Europäische Hirngewebebank

HISZPANIA
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas

KANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

FRANCJA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique

FRANCJA
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française

WŁOCHY
LAZIO
ROMA
UnRareNet: network multicentrico di ricerca per le malattie rare non diagnosticate (terminato)

KANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network

FRANCJA
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme

ZJEDNOCZONE KRÓLESTWO
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

ZJEDNOCZONE KRÓLESTWO
South Yorkshire
SHEFFIELD
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism

ZJEDNOCZONE KRÓLESTWO
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network

ZJEDNOCZONE KRÓLESTWO
West Yorkshire
LEEDS