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Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.
Ing, Alexander; Wlodaver, Alissa; Kirschmann, Dawn; Toledo, Erica; McCabe, Christopher; Kadri, Sabah; McIntyre, Mary Kate; Salazar, Joanne; Firestein, Kristina; Charrow, Joel; Sanders, Victoria; Laguna, Theresa; Yap, Kai Lee.
Afiliación
  • Ing A; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Wlodaver A; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Kirschmann D; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
  • Toledo E; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • McCabe C; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Kadri S; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • McIntyre MK; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Salazar J; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Firestein K; Center for Genomics, Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Charrow J; Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
  • Sanders V; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Laguna T; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
  • Yap KL; Division of Pulmonary and Sleep Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois 60611, USA.
Cold Spring Harb Mol Case Stud ; 7(1)2021 02.
Article en En | MEDLINE | ID: mdl-33608380
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos de la Motilidad Ciliar / Dineínas Axonemales / Transcriptoma Límite: Child, preschool / Female / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos de la Motilidad Ciliar / Dineínas Axonemales / Transcriptoma Límite: Child, preschool / Female / Humans Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos