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The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Marwaha, Ashish; Costain, Gregory; Cytrynbaum, Cheryl; Mendoza-Londono, Roberto; Chad, Lauren; Awamleh, Zain; Chater-Diehl, Eric; Choufani, Sanaa; Weksberg, Rosanna.
Afiliación
  • Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.
  • Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Mendoza-Londono R; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chad L; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
  • Awamleh Z; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Chater-Diehl E; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Choufani S; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Med Genet A ; 188(5): 1368-1375, 2022 05.
Article en En | MEDLINE | ID: mdl-35043535
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Vestibulares / Metilación de ADN Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Añadir a Mi BVS
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PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Vestibulares / Metilación de ADN Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Canadá