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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Smith, Michael; Alexander, Elizabeth; Marcinkute, Ruta; Dan, Dorica; Rawson, Myfanwy; Banka, Siddharth; Gavin, Jason; Mina, Hany; Hennessy, Con; Riccardi, Florence; Radio, Francesca Clementina; Havlovicova, Marketa; Cassina, Matteo; Emandi, Adela Chirita; Fradin, Melanie; Gompertz, Lianne; Nordgren, Ann; Traberg, Rasa; Rossi, Massimiliano; Trimouille, Aurelién; Sowmyalakshmi, Rasika; Dallapiccola, Bruno; Renieri, Alessandra; Faivre, Laurence; Kerr, Bronwyn; Verloes, Alain; Clayton-Smith, Jill; Douzgou, Sofia.
Afiliación
  • Smith M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Alexander E; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Marcinkute R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Dan D; Department of Human and Medical Genetics, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, M. K. Ciurlionio g. 21/27, LT-03101, Vilnius, Lithuania.
  • Rawson M; Romanian National Alliance for Rare Diseases RONARD, 29 Avram Iancu, etaj III, 450143, Zalau, Romania.
  • Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Gavin J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Mina H; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Oxford Road, Manchester, M13 9PL, UK.
  • Hennessy C; European Commission, DG Health and Food Safety, Information Systems, Rue Breydel 4 / Breydelstraat 4, Building B232 - 1049, Brussels, Belgium.
  • Riccardi F; Open Applications Consulting Ltd., Avoca House, 191 Parnell St, Rotunda, Dublin 1, Ireland.
  • Radio FC; Open Applications Consulting Ltd., Avoca House, 191 Parnell St, Rotunda, Dublin 1, Ireland.
  • Havlovicova M; Medical Genetics Department, La Timone Hospital, Marseilles Public University Hospital, 278 Rue Saint-Pierre, 13005, Marseille, France.
  • Cassina M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Emandi AC; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, V Úvalu 84, 150 06, Prague 5, Czech Republic.
  • Fradin M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani, 3 - 35128, Padova, Italy.
  • Gompertz L; Discipline of Genetics, Victor Babeș University of Medicine and Pharmacy, Piața Eftimie Murgu 2, 300041, Timișoara, Romania.
  • Nordgren A; "Louis Turcanu" Clinical Emergency Hospital for Children, Strada Doctor Iosif Nemoianu 2, 300011, Timișoara, Romania.
  • Traberg R; Department of Medical Genetics, CHU de Rennes, 2 rue Henri Le Guilloux, 35033, Rennes cedex 9, France.
  • Rossi M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
  • Trimouille A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine and Department of Clinical Genetics, Karolinska University Hospital, 171 77, Stockholm, Sweden.
  • Sowmyalakshmi R; Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Eiveniu Str. 2, LT-50161, Kaunas, Lithuania.
  • Dallapiccola B; Department of Medical Genetics, CHU de Lyon, 162 Avenue Lacassagne, 69003, Lyon, France.
  • Renieri A; Genetic Department, Hospices Civils de Lyon and CRNL, GENDEV Team, INSERM U1028, U1028 / UMR 5292, Bd Pinel - 69677, Bron Cedex, France.
  • Faivre L; Department of Genetics, AP-HP Robert-Debré University Hospital, Bd Sérurier, 75019, Paris, France.
  • Kerr B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
  • Verloes A; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico Santa Maria alle Scotte, Viale Mario Bracci, 16, 53100, Siena, Italy.
  • Clayton-Smith J; Department of Medical Genetics and Centre of Reference for Developmental Anomalies and Malformative syndromes, CHU de Dijon, 14 Rue Paul Gaffarel, 21000, Dijon, France.
  • Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, M13 9WL, UK.
Orphanet J Rare Dis ; 15(1): 103, 2020 04 25.
Article en En | MEDLINE | ID: mdl-32334637
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Telemedicina / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Telemedicina / Enfermedades Raras Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido