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Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
Demirbilek, Huseyin; Hatipoglu, Nihal; Gul, Ulku; Tatli, Zeynep U; Ellard, Sian; Flanagan, Sarah E; De Franco, Elisa; Kurtoglu, Selim.
Afiliação
  • Demirbilek H; Department of Paediatric Endocrinology, Hacettepe University Medical Faculty, Ankara, Turkey.
  • Hatipoglu N; Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.
  • Gul U; Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.
  • Tatli ZU; Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.
  • Ellard S; Department of Molecular Genetics, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Flanagan SE; Department of Molecular Genetics, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • De Franco E; Department of Molecular Genetics, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Kurtoglu S; Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.
Pediatr Diabetes ; 19(5): 898-904, 2018 08.
Article em En | MEDLINE | ID: mdl-29521454
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diabetes Mellitus / Fatores de Transcrição Hélice-Alça-Hélice Básicos / Malformações do Sistema Nervoso Tipo de estudo: Etiology_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article