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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: hiz as. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Importance of acrocyanosis in delayed walking.
Yiş U, Polat İ, Karakaya P, Ayanoğlu M, Hiz AS. Yiş U, et al. Among authors: hiz as. J Pediatr Neurosci. 2015 Jan-Mar;10(1):80-1. doi: 10.4103/1817-1745.154368. J Pediatr Neurosci. 2015. PMID: 25878756 Free PMC article.
Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy.
Gursoy S, Ataman E, Baysal BT, Özyılmaz B, Gençpınar P, Hız AS, Yiş U, Ünalp A, Dündar NO, Ülgenalp A, Erçal D. Gursoy S, et al. Among authors: hiz as. Ann Indian Acad Neurol. 2020 Mar-Apr;23(2):206-210. doi: 10.4103/aian.AIAN_465_19. Epub 2020 Feb 25. Ann Indian Acad Neurol. 2020. PMID: 32189863 Free PMC article.
Safety and efficacy of teriflunomide in paediatric multiple sclerosis (TERIKIDS): a multicentre, double-blind, phase 3, randomised, placebo-controlled trial.
Chitnis T, Banwell B, Kappos L, Arnold DL, Gücüyener K, Deiva K, Skripchenko N, Cui LY, Saubadu S, Hu W, Benamor M, Le-Halpere A, Truffinet P, Tardieu M; TERIKIDS Investigators. Chitnis T, et al. Lancet Neurol. 2021 Dec;20(12):1001-1011. doi: 10.1016/S1474-4422(21)00364-1. Lancet Neurol. 2021. PMID: 34800398 Clinical Trial.