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Long-read technologies identify a hidden inverted duplication in a family with choroideremia.
Fadaie, Zeinab; Neveling, Kornelia; Mantere, Tuomo; Derks, Ronny; Haer-Wigman, Lonneke; den Ouden, Amber; Kwint, Michael; O'Gorman, Luke; Valkenburg, Dyon; Hoyng, Carel B; Gilissen, Christian; Vissers, Lisenka E L M; Nelen, Marcel; Cremers, Frans P M; Hoischen, Alexander; Roosing, Susanne.
Afiliação
  • Fadaie Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Neveling K; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Derks R; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • den Ouden A; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Kwint M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • O'Gorman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Valkenburg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Hoyng CB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Gilissen C; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Nelen M; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Cremers FPM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Hoischen A; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Roosing S; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.
HGG Adv ; 2(4): 100046, 2021 Oct 14.
Article em En | MEDLINE | ID: mdl-35047838
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: HGG Adv Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: HGG Adv Ano de publicação: 2021 Tipo de documento: Article