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Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee, Bo Hoon; Reijnders, Margot R F; Abubakare, Oluwatobi; Tuttle, Emily; Lape, Brynn; Minks, Kelly Q; Stodgell, Christopher; Bennetto, Loisa; Kwon, Jennifer; Fong, Chin-To; Gripp, Karen W; Marsh, Eric D; Smith, Wendy E; Huq, Ahm M; Coury, Stephanie A; Tan, Wen-Hann; Solis, Orestes; Mehta, Rupal I; Leventer, Richard J; Baralle, Diana; Hunt, David; Paciorkowski, Alex R.
Affiliation
  • Lee BH; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
  • Reijnders MRF; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Abubakare O; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.
  • Tuttle E; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.
  • Lape B; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.
  • Minks KQ; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
  • Stodgell C; Department of Obstetrics and Gynecology, University of Rochester Medical Center, Rochester, New York.
  • Bennetto L; Department of Clinical and Social Sciences in Psychology, University of Rochester, Rochester, New York.
  • Kwon J; Department of Neurology, University of Rochester Medical Center, Rochester, New York.
  • Fong CT; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.
  • Gripp KW; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York.
  • Marsh ED; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York.
  • Smith WE; A.I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
  • Huq AM; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, and Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Coury SA; Department of Pediatrics, Maine Medical Center, Portland, Maine.
  • Tan WH; Departments of Pediatrics and Neurology, Wayne State University, Children's Hospital of Michigan, Detroit, Michigan.
  • Solis O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Mehta RI; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Leventer RJ; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.
  • Baralle D; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York.
  • Hunt D; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York.
  • Paciorkowski AR; The Royal Children's Hospital Department of Neurology, University of Melbourne, Department of Pediatrics and the Murdoch Children's Hospital Institute, Melbourne, Victoria, Australia.
Am J Med Genet A ; 176(1): 56-67, 2018 01.
Article in En | MEDLINE | ID: mdl-29150892
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Brain Diseases / DNA-Binding Proteins / Genetic Association Studies / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Transcription Factors / Brain Diseases / DNA-Binding Proteins / Genetic Association Studies / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication: United States