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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Among authors: alfares a. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.
Diabetic ketoacidosis in vanishing white matter.
Alamri H, Al Mutairi F, Alothman J, Alothaim A, Alfadhel M, Alfares A. Alamri H, et al. Among authors: alfares a. Clin Case Rep. 2016 Jun 17;4(8):717-20. doi: 10.1002/ccr3.597. eCollection 2016 Aug. Clin Case Rep. 2016. PMID: 27525068 Free PMC article.
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, Hundallah K, Wali S, Al-Hebbi H, Babiker A, Mohamed S, Eyaid W, Zada AAP. Alfares A, et al. Mol Genet Metab. 2017 Jun;121(2):91-95. doi: 10.1016/j.ymgme.2017.04.002. Epub 2017 Apr 7. Mol Genet Metab. 2017. PMID: 28454995 No abstract available.
115 results