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Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Khalifa OA, et al. Among authors: imtiaz f. Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812330
Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS. Khalak HG, et al. Among authors: imtiaz f. Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241088 Free article.
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Khalifa O, Imtiaz F, Allam R, Al-Hassnan Z, Al-Hemidan A, Al-Mane K, Abuharb G, Balobaid A, Sakati N, Hyland J, Al-Owain M. Khalifa O, et al. Among authors: imtiaz f. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783. J Med Genet. 2012. PMID: 22499343 No abstract available.
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M. Al-Hashmi N, et al. Among authors: imtiaz f. Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. Clin Dysmorphol. 2013. PMID: 23188137 No abstract available.
142 results