Browsing Øvrige samlinger by Author "Prasilova, Sarka"

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  • A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms 
    Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana; Bryn, Vesna; Slamova, Iva; Prasilova, Sarka; Kuglik, Petr; Frengen, Eirik (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)
    We report two unrelated patients with overlapping chromosome 2q13 deletions (patient 1 in chr2:111415137-113194067 bp and patient 2 in chr2:110980342-113007823 bp, hg 19). Patient 1 presents with developmental delay, ...