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Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "MacArthur, DG"

Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "MacArthur, DG"

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  • Severe neurodevelopmental disease caused by a homozygous TLK2 variant 
    Topf, A; Oktay, Y; Balaraju, S; Yilmaz, E; Sonmezler, E; Yis, U; Laurie, S; Thompson, R; Roos, A; MacArthur, DG; Yaramis, A; Gungor, S; Lochmuller, H; Hiz, S; Horvath, R (2019)
  • Severe neurodevelopmental disease caused by a homozygous TLK2 variant 
    Topf, A; Oktay, Y; Balaraju, S; Yilmaz, E; Sonmezler, E; Yis, U; Laurie, S; Thompson, R; Roos, A; MacArthur, DG; Yaramis, A; Gungor, S; Lochmuller, H; Hiz, S; Horvath, R (2020)
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All ...