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Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Ritter, Alyssa L; McDougall, Carey; Skraban, Cara; Medne, Livija; Bedoukian, Emma C; Asher, Stephanie B; Balciuniene, Jorune; Campbell, Colleen D; Baker, Samuel W; Denenberg, Elizabeth H; Mazzola, Sarah; Fiordaliso, Sarah K; Krantz, Ian D; Kaplan, Paige; Ierardi-Curto, Lynne; Santani, Avni B; Zackai, Elaine H; Izumi, Kosuke.
Afiliação
  • Ritter AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Skraban C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Medne L; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, Philadelphia, USA.
  • Bedoukian EC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Asher SB; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Balciuniene J; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Campbell CD; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Baker SW; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Denenberg EH; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Mazzola S; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Krantz ID; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Kaplan P; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Ierardi-Curto L; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, Philadelphia, USA.
  • Santani AB; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
  • Zackai EH; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, Philadelphia, USA.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Pennsylvania, Philadelphia, USA.
Am J Med Genet A ; 176(9): 1890-1896, 2018 09.
Article em En | MEDLINE | ID: mdl-30152016
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos