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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio, Domenica; Salvatore, Marco; Lumaka, Aimè; Carta, Claudio; Cellai, Laura L; Ferrari, Gianluca; Sciascia, Savino; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; Cutiongco-de la Paz, Eva Maria; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Puri, Ratna Dua; Romero, Vanessa; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel.
Afiliação
  • Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Salvatore M; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Lumaka A; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
  • Carta C; Service de Génétique Humaine, University Hospitals of Liège, Liège, Belgium.
  • Cellai LL; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Ferrari G; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Sciascia S; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
  • Groft S; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy.
  • Alanay Y; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States.
  • Azam M; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Turkey.
  • Baynam G; COMSATS University Islamabad, Islamabad, Pakistan.
  • Cederroth H; Rare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital, Perth, WA, Australia.
  • Cutiongco-de la Paz EM; Wilhelm Foundation, Stockholm, Sweden.
  • Dissanayake VHW; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
  • Giugliani R; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Gonzaga-Jauregui C; House of Rares, Medical Genetics Service, HCPA, Department Genetics UFRGS and DASA, Porto Alegre, Brazil.
  • Hettiarachchi D; International Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico, Juriquilla, Queretaro, Mexico.
  • Kvlividze O; Department of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
  • Landoure G; Georgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University, Tbilisi, Georgia.
  • Makay P; Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
  • Melegh B; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
  • Ozbek U; Department of Medical Genetics, School of Medicine, University of Pécs, Pécs, Hungary.
  • Puri RD; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Turkey.
  • Romero V; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Scaria V; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
  • Jamuar SS; CSIR Institute of Genomics and Integrative Biology, New Delhi, India.
  • Shotelersuk V; Singhealth Duke-NUS Genomic Medicine Centre, KK Women's and Children's Hospital, Singapore, Singapore.
  • Roccatello D; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
  • Gahl WA; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Bangkok, Thailand.
  • Wiafe SA; Center of Excellence on Nephrologic, Rheumatologic and Rare Diseases (ERK-Net, ERN-Reconnect and RITA-ERN Member) With Nephrology and Dialysis Unit, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy.
  • Bodamer O; National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, United States.
  • Posada M; Rare Disease Ghana Initiative, Accra, Ghana.
Front Public Health ; 11: 1079601, 2023.
Article em En | MEDLINE | ID: mdl-36935719
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças não Diagnosticadas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Front Public Health Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças não Diagnosticadas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Front Public Health Ano de publicação: 2023 Tipo de documento: Article