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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

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第一作者: Ruzzo,E.K.
作者单位: Department of Molecular Genetics, Weizmann Institute of Science, 76100 Rehovot, Israel [1] Department of Psychiatry and Behavioral Sciences, Mouse Behavioral and Neuroendocrine Analysis Core [2] Molecular Genetics and Microbiology and The Duke Institute for Brain Sciences, Duke University [3] Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United [4] The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel, The Danek Gertner [5] H?pital Necker-Enfants Malades, 75015 Paris, France [6] Department of Pediatrics and Neurobiology, Duke University School of Medicine, Durham, NC 27710 [7] Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, United [8] The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel, Institute of Medical [9] The Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel, Metabolic Neurogenetic [10] Department of Clinical Pharmacy and Pharmacology, Faculty of Pharmacy, University of Dhaka, 1000 [11] Research Center, Centre Hospitalier de l'Université de Montréal, Montreal, QC H2L 2W5, Canada [12] The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, University of Toronto [13] Sainte-Justine Hospital Research Center, Montreal, QC H3T 1C5, Canada [14] Department of Medical Imaging, Sainte-Justine Hospital, Montreal, QC H3T 1C5, Canada [15] Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel, The [16] Department of Neurobiology, Duke University, Durham, NC 27708, United States [17] Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, University of Toronto [18] Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Ramat Gan, Israel, The Danek [19] Department of Medical Imaging, The Hospital for Sick Children, University of Toronto, Toronto, ON [20]
发布时间 2014-01-22
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