| Autor: |
Baynam GS; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Groft S; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA., van der Westhuizen FH; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za., Gassman SD; Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA., du Plessis K; Rare Diseases South Africa, Johannesburg, South Africa., Coles EP; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Selebatso E; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Selebatso M; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Gaobinelwe B; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Selebatso T; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.; Botswana University of Agriculture and Natural Resources, Gaborone, Botswana., Joel D; Department of Pediatric and Adolescent Medicine, Faculty of Medicine, University of Botswana School of Medicine, Botswana-Baylor Children's Clinical Centre of Excellence and Princess Marina Hospital, Gaborone, Botswana., Llera VA; GEISER Foundation, Mendoza, Argentina., Vorster BC; Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa., Wuebbels B; Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA., Djoudalbaye B; Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia., Austin CP; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA., Kumuthini J; Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa., Forman J; Unaffiliated rare-disease advocate, Wellington, New Zealand., Kaufmann P; AveXis, San Diego, CA, USA., Chipeta J; University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia., Gavhed D; Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden., Larsson A; Regional Cancer Center Uppsala Örebro, Uppsala, Sweden., Stojiljkovic M; Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia., Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden., Roldan EJA; Innovation Division, GADOR SA, Buenos Aires, Argentina., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Wong-Rieger D; Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.; Rare Diseases International, Geneva, Switzerland., Nowak K; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Bilkey GA; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Easteal S; John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Bowdin S; Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Reichardt JKV; Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia., Beltran S; Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Kosaki K; Center for Medical Genetics, Keio University, Tokyo, Japan., van Karnebeek CDM; Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands., Gong M; National Rare Diseases Registry System of China (NRDRS), Beijing, China., Shuyang Z; Peking Union Medical College Hospital, Beijing, China., Mehrian-Shai R; Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel., Adams DR; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Puri RD; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India., Zhang F; SeekIn. Inc., Yantian, Shenzhen, Guangdong, China., Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Curtin University, Perth, Western Australia, Australia., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, and Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK., Gahl WA; National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Cederroth H; Wilhelm Foundation, Sandbacken, Brottby, Sweden., Broley S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Schoonen M; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Posada M; Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain. |
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