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EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

  1. Info** Dokument nie je vo fonde knižnice **
    TitleEIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO
    Author infoSkopkova M. ... [et al.]
    Co-authors Škopková Martina
    Staníková Daniela
    Brennerová Katarína
    Staník Juraj
    Kurdiová Timea
    Ukropec Jozef
    Nyitrayová Oľga
    Kolníková Miriam
    Klimeš Iwar 1951-2022
    Gašperíková Daniela
    Source Human mutation . - Vol. 38, no. 4 (2017), s. 409-425
    LanguageEnglish
    CountryUnited States of America
    NotePopis urobený z citácie
    Document kindRozpis článkov z periodík
    DatabaseARTICLES
    Citations[2] DANIŠ, Daniel - BRENNEROVÁ, Katarína - ŠKOPKOVÁ - ŽARNAYOVÁ, Martina - KURDIOVÁ, Timea - UKROPEC, Jozef - STANÍK, Juraj - KOLNÍKOVÁ, Miriam - GAŠPERÍKOVÁ, Daniela. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients. In Endocrine regulations. - Bratislava : Institute of Experimental Endocrinology, 2018. ISSN 1210-0668, 2018, vol. 52, no. 2, s. 110-118.
    [2] RAMBANI, Vibhuti - HROMNÍKOVÁ, Dominika - GAŠPERÍKOVÁ, Daniela - ŠKOPKOVÁ, Martina. Mitochondria and mitochondrial disorders: an overview update. In Endocrine regulations. - Bratislava : Institute of Experimental Endocrinology, 2022. ISSN 1210-0668, 2022, vol. 56, no. 3, s. 232-248.
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