DSpace Repository

Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "Laurie, S"

Browsing Araştırma Çıktıları | Pubmed İndeksli Yayınlar Koleksiyonu by Author "Laurie, S"

Sort by: Order: Results:

  • 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 ...
  • y COL4A1-related autosomal recessive encephalopathy in 2 Turkish 
    Yaramis, A; Lochmuller, H; Topf, A; Sonmezler, E; Yilmaz, E; Hiz, S; Yis, U; Gungor, S; Polat, AI; Edem, P; Beltran, S; Laurie, S; Horvath, R; Oktay, Y (2020)
    Objective
  • Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional 
    Oktay, Y; Gungor, S; Zeltner, L; Wiethoff, S; Schols, L; Sonmezler, E; Yilmaz, E; Munro, B; Bender, B; Kernstock, C; Kaemereit, S; Liepelt, I; Topf, A; Yis, U; Laurie, S; Yaramis, A; Zuchner, S; Hiz, S; Lochmuller, H; Schule, R; Horvath, R (2020)
    Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.
  • High diagnostic rate of trio exome sequencing in consanguineous families 
    Kurul, SH; Oktay, Y; Topf, A; Szabo, NZ; Gungor, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; Paramonov, I; Kalafatcilar, IP; Gao, F; Rieger, A; Arslan, N; Yilmaz, E; Ekinci, B; Edem, PP; Aslan, M; Ozgor, B; Lochmuller, A; Nair, A; O'Heir, E; Lovgren, AK; Maroofian, R; Houlden, H; Polavarapu, K; Roos, A; Muller, JS; Hathazi, D; Chinnery, PF; Laurie, S; Beltran, S; Lochmuller, H; Horvath, R (2022)
    Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and ...