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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Buelow, Markus; Süßmuth, David; Smith, Laurie D; Aryani, Omid; Castiglioni, Claudia; Stenzel, Werner; Bertini, Enrico; Schuelke, Markus; Knierim, Ellen.
Afiliação
  • Buelow M; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
  • Süßmuth D; HELIOS Kliniken - Helios Klinikum Hohenstücken, Berlin, Germany.
  • Smith LD; Department of Pediatrics, Division of Pediatric Genetics and Metabolism, The University of North Carolina SOM, North Carolina, NC, USA.
  • Aryani O; Department of Neuroscience, Iranian University of Medical Sciences, Tehran, Iran.
  • Castiglioni C; Pediatric Neurology, Clínica Las Condes, Santiago, Chile.
  • Stenzel W; Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
  • Schuelke M; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
  • Knierim E; NeuroCure Clinical Research Center, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin und Humboldt Universität zu Berlin, Berlin, Germany.
Eur J Hum Genet ; 29(7): 1121-1128, 2021 07.
Article em En | MEDLINE | ID: mdl-33772159
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Espectrina / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Genótipo Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Variação Genética / Espectrina / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Genótipo Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article