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European Journal of Pediatrics|December 12, 2013
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literatureButhainah Albash, Faiqa Imtiaz, Hamad Al-Zaidan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2018
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotypeNada Derar, Zuhair N Al-Hassnan, Mohammed Al-Owain, et al.Journal of Child Neurology|December 4, 2009
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literatureZuhair N Al-Hassnan, Hesham Al Dhalaan, Zoltan Patay, et al.The American Journal of Emergency Medicine|March 21, 2022
Emergency management of critically ill adult patients with inherited metabolic disordersRaashda A Sulaiman, Abdulaziz Alali, Sulaiman Hosaini, et al.Hormone Research in Paediatrics|July 26, 2017
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron SyndromeAbdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, et al.Genes|December 15, 2020
Identification of Novel <i>CDH23</i> Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing LossKhushnooda Ramzan, Nouf S Al-Numair, Sarah Al-Ageel, et al.Journal of Child Neurology|December 14, 2011
Propionic acidemia associated with visual hallucinationsTaghreed Shuaib, Nadia Al-Hashmi, Mohammad Ghaziuddin, et al.Journal of Medical Genetics|December 15, 2012
Mutation in MPDZ causes severe congenital hydrocephalusMohammed S Al-Dosari, Mohammed Al-Owain, Maha Tulbah, et al.International Journal of Dermatology|April 11, 2016
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi familiesSalma M Wakil, Yousef Binamer, Haya Al-Dossari, et al.European Journal of Medical Genetics|April 29, 2014
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian populationKhushnooda Ramzan, Khalid Taibah, Asma I Tahir, et al.Pageof 9