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  • Miller-Dieker sindrom = Miller-Dieker syndrome
    Borinc Beden, Andreja, dr. med. ; Kopač, Štefan
    Lissencephaly is one of the most severe and the best-known disorder of corticogenesis. It results from abnormal neuronal migration during the early stage of embryonic development. A common cause is ... genetic mutation. Deficiencyof LIS 1 protein, which plays a critical role in neuronal migration,is caused by deletions of chromosome 17p 13.3. Over 25 different syndromes with lissencephaly have been described. Miller - Dieker syndrome consists of type I lissencephaly, characteristic facial appearance, profound mental retardation and sometimes other abnormalities.
    Vir: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 7, [št.] 2, 2000, str. 75-78)
    Vrsta gradiva - članek, sestavni del
    Leto - 2000
    Jezik - slovenski
    COBISS.SI-ID - 13593049

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