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Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Turgut, Gozde Tutku; Altunoglu, Umut; Sivrikoz, Tugba Sarac; Toksoy, Guven; Kalayci, Tugba; Avci, Sahin; Karaman, Birsen; Gulec, Cagri; Basaran, Seher; Sayin, Gözde Yesil; Kayserili, Hulya; Uyguner, Zehra Oya.
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  • Turgut GT; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Altunoglu U; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Sivrikoz TS; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.
  • Toksoy G; Perinatology Unit, Department of Obstetrics and Gynecology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Kalayci T; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Avci S; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Karaman B; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Gulec C; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey.
  • Basaran S; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Sayin GY; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey.
  • Kayserili H; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Uyguner ZO; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Clin Genet ; 101(4): 421-428, 2022 04.
Article en En | MEDLINE | ID: mdl-35066879
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Contractura Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Artrogriposis / Contractura Tipo de estudio: Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Clin Genet Año: 2022 Tipo del documento: Article País de afiliación: Turquía