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Identification of PCDH19 Gene Mutations/Deletions in Patients with Early Onset Epilepsy.
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.
Measurement of the apparent diffusion coefficient in paediatric mitochondrial encephalopathy cases and a comparison of parenchymal changes associated with the disease using follow-up diffusion coefficient measurements.
Uysal F, Cakmakçı H, Yiş U, Ellidokuz H, Hız AS.
Uysal F, et al. Among authors: hiz as.
Eur J Radiol. 2014 Jan;83(1):212-8. doi: 10.1016/j.ejrad.2013.06.031. Epub 2013 Oct 17.
Eur J Radiol. 2014.
PMID: 24176530
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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.
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Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.
Polat Aİ, Yiş U, Ayanoğlu M, Hız AS, Güleryüz H, Öztürk Atasoy T, Boerkoel CF.
Polat Aİ, et al. Among authors: hiz as.
Turk J Pediatr. 2015 Sep-Oct;57(5):509-13.
Turk J Pediatr. 2015.
PMID: 27411420
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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.
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A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome.
Abaci A, Catli G, Bayram E, Koroglu T, Olgun HN, Mutafoglu K, Hiz AS, Cakmakci H, Bober E.
Abaci A, et al. Among authors: hiz as.
Endocr Pract. 2013 Jan-Feb;19(1):e12-6. doi: 10.4158/EP12140.CR.
Endocr Pract. 2013.
PMID: 23186956
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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.
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