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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Steinman, Kyle J; Spence, Sarah J; Ramocki, Melissa B; Proud, Monica B; Kessler, Sudha K; Marco, Elysa J; Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Chung, Wendy K; Sherr, Elliott H.
Afiliação
  • Steinman KJ; University of Washington and Seattle Children's Research Institute, Seattle, Washington. kylejs@uw.edu.
  • Spence SJ; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Ramocki MB; University Otolaryngology, Providence, Rhode Island.
  • Proud MB; Baylor College of Medicine, Houston, Texas.
  • Kessler SK; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Marco EJ; University of California, San Francisco, San Francisco, California.
  • Green Snyder L; Clinical Research Associates, New York, New York.
  • D'Angelo D; Mailman School of Public Health, Columbia University, New York, New York.
  • Chen Q; Mailman School of Public Health, Columbia University, New York, New York.
  • Chung WK; Columbia University Medical Center, New York, New York.
  • Sherr EH; University of California, San Francisco, San Francisco, California.
Am J Med Genet A ; 170(11): 2943-2955, 2016 11.
Article em En | MEDLINE | ID: mdl-27410714
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Cromossomos Humanos Par 16 / Deleção Cromossômica / Transtornos Cromossômicos / Duplicação Cromossômica Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Cromossomos Humanos Par 16 / Deleção Cromossômica / Transtornos Cromossômicos / Duplicação Cromossômica Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article