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Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Hunter, Jesse M; Massingham, Lauren J; Manickam, Kandamurugu; Bartholomew, Dennis; Williamson, Rachel K; Schwab, Jennifer L; Marhabaie, Mohammad; Siemon, Amy; de Los Reyes, Emily; Reshmi, Shalini C; Cottrell, Catherine E; Wilson, Richard K; Koboldt, Daniel C.
Afiliación
  • Hunter JM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • Massingham LJ; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
  • Manickam K; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.
  • Bartholomew D; Alpert School of Medicine at Brown University, Providence, Rhode Island 02903, USA.
  • Williamson RK; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
  • Schwab JL; Division of Genetic and Genomic Medicine.
  • Marhabaie M; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
  • Siemon A; Division of Genetic and Genomic Medicine.
  • de Los Reyes E; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • Reshmi SC; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, Rhode Island 02903, USA.
  • Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
  • Wilson RK; Division of Genetic and Genomic Medicine.
  • Koboldt DC; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
Cold Spring Harb Mol Case Stud ; 8(2)2022 02.
Article en En | MEDLINE | ID: mdl-35091509
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Serina-Treonina Quinasas / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos