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Kohlschütter-T?nz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

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第一作者: Tucci,A.
作者单位: Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria [1] Department of Child Neurology, VU University Medical Centre, Amsterdam, Netherlands [2] Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA [3] Mitteldeutscher Praxisverbund Humangenetik, Dresden, Germany [4] Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for [5] Epilepsy Centre Kork, Kehl-Kork, Germany [6] Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda [7] Núcleo de Investiga??o Molecular Avan?ada, Programa de Pós-Gradua??o em Ciências da Saúde, Centro [8] Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), [9] Department of Neurological, Neurosurgical and Behavioural Sciences, Siena University, Siena, Italy [10] Department of Dentistry, Royal Children's Hospital Parkville, Victoria, Australia [11] Department of Medicine, University of Melbourne, Australia [12] Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington [13] Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States [14] Department of Pediatrics, Academic Medical Centre, Amsterdam, Netherlands [15] Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University [16] University College London (UCL) Genetics Institute (UGI), London, United Kingdom [17] Department of Genetics, University Medical Center Groningen, Groningen, Netherlands [18] Departments of Neurology, Psychiatry, Genetics and Genomic Sciences, Mount Sinai School of Medicine [19] Institute of Human Genetics, Tübingen University, Germany [20]
发布时间 2013-11-20
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