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Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens, Remko; van den Boogaard, Marlinde L; Lemmers, Richard J L F; Balog, Judit; van der Vliet, Patrick J; Willemsen, Iris M; Schouten, Julie; Maggio, Ignazio; van der Stoep, Nienke; Hoeben, Rob C; Tapscott, Stephen J; Geijsen, Niels; Gonçalves, Manuel A F V; Sacconi, Sabrina; Tawil, Rabi; van der Maarel, Silvère M.
Affiliation
  • Goossens R; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van den Boogaard ML; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Lemmers RJLF; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Balog J; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Vliet PJ; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Willemsen IM; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Schouten J; Hubrecht Institute-KNAW and University Medical Center, Utrecht, The Netherlands.
  • Maggio I; Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht, The Netherlands.
  • van der Stoep N; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.
  • Hoeben RC; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Tapscott SJ; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Geijsen N; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.
  • Gonçalves MAFV; Division of Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
  • Sacconi S; Hubrecht Institute-KNAW and University Medical Center, Utrecht, The Netherlands.
  • Tawil R; Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht, The Netherlands.
  • van der Maarel SM; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.
J Med Genet ; 56(12): 828-837, 2019 12.
Article in En | MEDLINE | ID: mdl-31676591
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / Homeodomain Proteins / Muscular Dystrophy, Facioscapulohumeral Type of study: Guideline / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / Homeodomain Proteins / Muscular Dystrophy, Facioscapulohumeral Type of study: Guideline / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2019 Type: Article Affiliation country: Netherlands