COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

af Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, Oktay, Yavuz
Udgivet i Neurol Genet (2020)

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

af Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Udgivet i Eur J Hum Genet (2019)

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

af Oktay, Yavuz, Güngör, Serdal, Zeltner, Lena, Wiethoff, Sarah, Schöls, Ludger, Sonmezler, Ece, Yilmaz, Elmasnur, Munro, Benjamin, Bender, Benjamin, Kernstock, Christoph, Kaemereit, Sofie, Liepelt, Inga, Töpf, Ana, Yis, Uluc, Laurie, Steven, Yaramis, Ahmet, Zuchner, Stephan, Hiz, Semra, Lochmüller, Hanns, Schüle, Rebecca, Horvath, Rita
Udgivet i J Neuromuscul Dis (2020)

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

af Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Udgivet i iScience (2020)