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Browsing by Author "MacArthur, DG"

Browsing 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 (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 ...
  • 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 ...
  • Autosomal recessive variants in TUBGCP2 alter the gamma-tubulin ring 
    Gungor, S; Oktay, Y; Hiz, S; Aranguren-Ibanez, A; Kalafatcilar, I; Yaramis, A; Karaca, E; Yis, U; Sonmezler, E; Ekinci, B; Aslan, M; Yilmaz, E; Ozgor, B; Balaraju, S; Szabo, N; Laurie, S; Beltran, S; MacArthur, DG; Hathazi, D; Topf, A; Roos, A; Lochmuller, H; Vernos, I; Horvath, R (2021)
    Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (gamma-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two ...