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A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy.
Yavas Abali, Zehra; Gokpinar Ili, Ezgi; Bas, Firdevs; Ulak Ozkan, Melis; Gulec, Çagri; Toksoy, Guven; Ozturk, Ayse Pinar; Karakilic Ozturan, Esin; Aslanger, Ayça; Caliskan, Mine; Yesil, Gozde; Poyrazoglu, Sukran; Darendeliler, Feyza; Oya Uyguner, Zehra.
Afiliação
  • Yavas Abali Z; Institute of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Gokpinar Ili E; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Bas F; Department of Pediatric Endocrinology, Pendik Research and Training Hospital, Marmara University, Istanbul, Turkey.
  • Ulak Ozkan M; Department of Medical Genetics, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey.
  • Gulec Ç; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Toksoy G; Department of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Ozturk AP; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Karakilic Ozturan E; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Aslanger A; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Caliskan M; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Yesil G; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Poyrazoglu S; Department of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Darendeliler F; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
  • Oya Uyguner Z; Department of Pediatric Endocrinology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Horm Res Paediatr ; 97(2): 157-164, 2024.
Article em En | MEDLINE | ID: mdl-37463572
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Ligação a RNA / Doenças do Sistema Nervoso Periférico / Hipopituitarismo Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Horm Res Paediatr Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Turquia País de publicação: Suíça
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Ligação a RNA / Doenças do Sistema Nervoso Periférico / Hipopituitarismo Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Horm Res Paediatr Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Turquia País de publicação: Suíça