Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay by Al-Sayed, Moeenaldeen D., Al-Zaidan, Hamad, Albakheet, AlBandary, Hakami, Hana, Kenana, Rosan, Al-Yafee, Yusra, Al-Dosary, Mazhor, Qari, Alya, Al-Sheddi, Tarfa, Al-Muheiza, Muhammed, Al-Qubbaj, Wafa, Lakmache, Yamina, Al-Hindi, Hindi, Ghaziuddin, Muhammad, Colak, Dilek, Kaya, Namik

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The Development of Genetic Counseling Services and Training Program in Saudi Arabia by Qari, Alya A., Balobaid, Ameera S., Rawashdeh, Rifaat R., Al-Sayed, Moeenaldeen D.

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Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds by Faiyaz-Ul-Haque, Muhammad, Al-Sayed, Moeenaldeen D, Faqeih, Eissa, Jamil, Masood, Saeed, Anjum, Amoudi, Mohamed Saleh, Kaya, Namik, Abalkhail, Halah, Al-Abdullatif, Ahmed, Rashed, Mohamed, Al-Owain, Mohammed, Peltekova, Iskra, Zaidi, Syed H E

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Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial by Hendriksz, Christian J, Giugliani, Roberto, Harmatz, Paul, Mengel, Eugen, Guffon, Nathalie, Valayannopoulos, Vassili, Parini, Rossella, Hughes, Derralynn, Pastores, Gregory M, Lau, Heather A, Al-Sayed, Moeenaldeen D, Raiman, Julian, Yang, Ke, Mealiffe, Matthew, Haller, Christine

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Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial by Hendriksz, Christian J., Giugliani, Roberto, Harmatz, Paul, Mengel, Eugen, Guffon, Nathalie, Valayannopoulos, Vassili, Parini, Rossella, Hughes, Derralynn, Pastores, Gregory M., Lau, Heather A., Al-Sayed, Moeenaldeen D., Raiman, Julian, Yang, Ke, Mealiffe, Matthew, Haller, Christine

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Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus by Sparrow, Duncan B., Faqeih, Eissa Ali, Sallout, Bahauddin, Alswaid, Abdulrahman, Ababneh, Faroug, Al-Sayed, Moeenaldeen, Rukban, Hadeel, Eyaid, Wafaa M., Kageyama, Ryoichiro, Ellard, Sian, Turnpenny, Peter D., Dunwoodie, Sally L.

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Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosi... by Giugliani, Roberto, Fietz, Michael, Al-Sayed, Moeenaldeen, Burke, Derek, Cohen-Pfeffer, Jessica, Cooper, Jonathan D., de Halac, Ines Noher, Dvořáková, Lenka, Izzo, Emanuela, Jahnová, Helena, Lukacs, Zoltan, Mole, Sara, Pearce, David, Schulz, Angela, Specchio, Nicola, Xin, Winnie, Miller, Nicole

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