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Page 1
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Siddiqui SS, Bouazzaoui A, Abalkhail H, Aun R, Al-Allaf AF, AbuMansour I, Azhar Z, Ba-Hammam FA, Khan W, Athar M. Al-Allaf FA, et al. Among authors: abumansour i. Genomics. 2016 Jan;107(1):24-32. doi: 10.1016/j.ygeno.2015.12.001. Epub 2015 Dec 11. Genomics. 2016. PMID: 26688439 Free article.
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Among authors: abumansour is. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.
Mufti AH, AlJahdali IA, Elhawary NA, Ekram SN, Abumansour I, Sindi IA, Naffadi H, Elhawary EN, Alyamani NM, Alghamdi G, Alosaimi W, Rawas G, Alharbi A, Tayeb MT. Mufti AH, et al. Among authors: abumansour i. Int J Gen Med. 2021 Dec 19;14:10031-10044. doi: 10.2147/IJGM.S341079. eCollection 2021. Int J Gen Med. 2021. PMID: 34984025 Free PMC article.
Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis.
Chaudhary AG, AlReefi FM, Abou Zahr RG, Elzeftawy HA, Alghamdi SS, Bushnag AA, Al-Maghrabi JA, Abumansour IS. Chaudhary AG, et al. Among authors: abumansour is. CJC Open. 2022 Oct 1;4(12):1031-1035. doi: 10.1016/j.cjco.2022.09.005. eCollection 2022 Dec. CJC Open. 2022. PMID: 36562013 Free PMC article.
17 results