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Schaaf-Yang syndrome overview: Report of 78 individuals.
McCarthy, John; Lupo, Philip J; Kovar, Erin; Rech, Megan; Bostwick, Bret; Scott, Daryl; Kraft, Katerina; Roscioli, Tony; Charrow, Joel; Schrier Vergano, Samantha A; Lose, Edward; Smiegel, Robert; Lacassie, Yves; Schaaf, Christian P.
Afiliação
  • McCarthy J; Institute of Human Genetics, University Hospital Cologne, Köln, Germany.
  • Lupo PJ; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • Kovar E; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
  • Rech M; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas.
  • Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Scott D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kraft K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Roscioli T; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
  • Charrow J; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Schrier Vergano SA; Department of Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.
  • Lose E; Neuroscience Research Australia (NeuRA), University of New South Wales, Sydney, Australia.
  • Smiegel R; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
  • Lacassie Y; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
  • Schaaf CP; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.
Am J Med Genet A ; 176(12): 2564-2574, 2018 12.
Article em En | MEDLINE | ID: mdl-30302899

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / 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: Alemanha País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / 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: Alemanha País de publicação: Estados Unidos