부산대학교 도서관

Morton SU; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Christodoulou J; Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.; Costain G; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program for Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Muntoni F; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; North East Thames Regional Genetic Service, Great Ormond Street Hospital Trust, London, United Kingdom.; Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital Trust, London, United Kingdom.; Wojcik MH; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; French CE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Szuto A; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Dowling JJ; Program for Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Cohn RD; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program for Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.; Raymond FL; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.; Darras BT; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Williams DA; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Division of Hematology/Oncology, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.; Lunke S; Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Department of Pathology, University of Melbourne, Melbourne, Australia.; Stark Z; Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Australian Genomics Health Alliance, Melbourne, Australia.; Rowitch DH; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.; Division of Neonatology, Department of Pediatrics, University of California, San Francisco.; Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Preece, M A; Abu-Amero, S N; Ali, Z; Abu-Amero, K K; Wakeling, E L; Stanier, P; Moore, G E

Journal of Medical Genetics. Jun 01, 1999 36(6):457-460

Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H.; Veenstra-Knol, Hermine E.; Herkert, Johanna C.; Lund, Allan M.; Hennekam, Raoul C. M.; Megarbane, Andre; Lees, Melissa M.; Wilson, Louise C.; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C.; Bongers, Ernie M. H. F.; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W.; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M.; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D.; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M.; Tobias, Edward S.; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V.; Coucke, Paul; Mortier, Geert R.

American Journal of Medical Genetics. Part A. 167A(3):461-475

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Nuclear Fusion. 59(1)

Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Bertacchi M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Tocco C; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Kim US; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Kim's Eye Hospital, Seoul, South Korea.; Kruszewski AM; Department of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Avery RA; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA.; Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Ahn SJ; Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.; Pontikos N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Acheson J; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Davagnanam I; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Brain Repair & Rehabilitation, UCL Queen Square Institute of Neurology, London, UK.; Bowman R; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kaliakatsos M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.; Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Wolfson Neurodisability Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Reddy MA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Royal London Hospital, Barts Health NHS Trust, London, UK.; Clark E; Department of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Amati-Bonneau P; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.; Genetics and Immuno-cell Therapy Team, Mohammed First University, Oujda, Morocco.; Charif M; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; National Center for Rare Diseases, Inherited Sensory Disorders, Gui de Chauliac Hospital, Montpellier, France.; Lenaers G; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Meunier I; Institut des Neurosciences de Montpellier, INSERM INSERM U1051, Université de Montpellier, Montpellier, France.; Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France.; Vincent-Delorme C; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.; Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Holder GE; Institute of Ophthalmology, University College London, London, UK.; Yong Loo Lin School of Medicine, Department of Ophthalmology, National University of Singapore, Singapore, Singapore.; Jeanjean L; Department of Ophthalmology, University Hospital of Nimes, Nimes, France.; Martinez-Monseny A; Genetic and Molecular Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Vidal-Santacana M; Department of Ophthalmology, Hospital Sant Joan de Déu, Barcelona, Spain.; Dominici C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.; Gaggioli C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.; Giordano N; Neuroscience Institute-CNR, Pisa, Italy.; Caleo M; Neuroscience Institute-CNR, Pisa, Italy.; Liu GT; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA.; Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Studer M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France.; Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Lindley, K. J.; Dunne, M. J.; Kane, C.; Shepherd, R. M.; Squires, P. E.; James, R. F. L.; Johnson, P. R. V.; Eckhardt, S.; Wakeling, E.; Dattani, M.; Milla, P. J.; Aynsley-Green, A.

Archives of Disease in Childhood. May 01, 1996 74(5):373-378