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Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen, Jiadi; Chai, Hongyan; Grommisch, Brittany; DiAdamo, Autumn; Dykas, Daniel; Ma, Deqiong; Popa, Andreea; Zhao, Chen; Spencer-Manzon, Michele; Jiang, Yong-Hui; McGrath, James; Li, Peining; Bale, Allen; Zhang, Hui.
  • Wen J; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Chai H; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Grommisch B; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • DiAdamo A; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Dykas D; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Ma D; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Popa A; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Zhao C; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Spencer-Manzon M; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Jiang YH; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • McGrath J; Department of Comparative medicine, Yale University, New Haven, Connecticut, USA.
  • Li P; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Bale A; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Zhang H; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Am J Med Genet A ; 188(6): 1728-1738, 2022 06.
Article en En | MEDLINE | ID: mdl-35199448
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Disomía Uniparental Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Disomía Uniparental Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article