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Phenotypic heterogeneity of genomic disorders and rare copy-number variants

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第一作者: Girirajan,S.
作者单位: Weisskopf Child Evaluation Center, Pediatrics Department, University of Louisville, Louisville, KY [1] Ann and Robert H. Lurie Children's Hospital, Chicago, United States [2] Peyton Manning Children's Hospital at St. Vincent, Indianapolis, United States [3] Providence-Sacred Heart Hospital, Spokane, WA, United States [4] Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, Center for [5] Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC (University of Pittsburgh [6] Maine Medical Partners, Pediatric Specialty Care, Portland, United States [7] Division of Genetics, Department of Pediatrics, Cooper Medical School of Rowan University, Camden [8] State University of New York, Upstate Medical University, Syracuse, United States [9] Nemours Children's Clinic, Jacksonville, FL, United States [10] Howard Hughes Medical Institute, Department of Genome Sciences, University of Washington School of [11] Group Health Cooperative, Seattle, WA, United States [12] Department of Pediatrics, Ochsner Clinic Foundation, New Orleans, United States [13] Yakima Valley Memorial Hospital, Yakima, WA, United States [14] Rhode Island Hospital, Hasbro Children's Hospital, Providence, United States [15] Signature Genomic Laboratories, PerkinElmer, Spokane, WA, United States [16] Division of Child Neurology, Children's Hospital of Pittsburgh of UPMC (University of Pittsburgh [17] Maritime Medical Genetics, Izaak Walton Killam Health Centre, Halifax, NS, Canada [18] Cleveland Clinic, Cleveland, United States [19] Department of Pediatrics, Dalhousie University, Halifax, NS, Canada [20] Children's Hospital of Michigan, Detroit, MI, United States [21] Department of Pediatrics, Levine Children's Hospital, Carolinas Medical Center, Charlotte, NC [22] North York General Hospital, Toronto, NY, United States [23] Department of Pediatrics, Rush University Medical Center, Chicago, United States [24] Division of Pediatric Genetics, University of New Mexico Health Sciences Center, Division of [25] Departments of Pediatrics and Human Genetics, University of Michigan Medical Center, Ann Arbor, MI [26]
发布时间 2013-11-20
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The New England journal of medicine

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