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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: al gazali l, al owain m, al thihli k. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
An update on ocular involvement in mucopolysaccharidoses.
Ganesh A, Bruwer Z, Al-Thihli K. Ganesh A, et al. Among authors: al thihli k. Curr Opin Ophthalmol. 2013 Sep;24(5):379-88. doi: 10.1097/ICU.0b013e3283644ea1. Curr Opin Ophthalmol. 2013. PMID: 23872816 Review.
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Bruwer Z, Al Riyami N, Al Dughaishi T, Al Murshedi F, Al Sayegh A, Al Kindy A, Meftah D, Al Kharusi K, Al Foori A, Al Yarubi N, Scott P, Al-Thihli K. Bruwer Z, et al. Among authors: al riyami n, al murshedi f, al dughaishi t, al foori a, al yarubi n, al kharusi k, al thihli k, al kindy a, al sayegh a. J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124. J Perinat Med. 2018. PMID: 28822227
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.
Al-Mamari W, Idris AB, Al-Thihli K, Abdulrahim R, Jalees S, Al-Jabri M, Gabr A, Al Murshedi F, Al Kindy A, Al-Hadabi I, Bruwer Z, Islam MM, Alsayegh A. Al-Mamari W, et al. Among authors: al murshedi f, al jabri m, al thihli k, al hadabi i, al kindy a. Int J Dev Disabil. 2021 Jun 21;69(2):190-200. doi: 10.1080/20473869.2021.1937000. eCollection 2023. Int J Dev Disabil. 2021. PMID: 37025335 Free PMC article.
Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children.
Koul R, Al-Yarubi S, Al-Kindy H, Al-Futaisi A, Al-Thihli K, Chacko PA, Sankhla D. Koul R, et al. Among authors: al futaisi a, al kindy h, al yarubi s, al thihli k. J Child Neurol. 2014 Nov;29(11):1436-40. doi: 10.1177/0883073813479173. Epub 2013 Mar 12. J Child Neurol. 2014. PMID: 23481446
63 results