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Outcome associated with EPCAM founder mutation c.499dup in Qatar.
Hassan K, Sher G, Hamid E, Hazima KA, Abdelrahman H, Al Mudahka F, Al-Masri W, Sankar J, Daryaee M, Shawish R, Khan MA, Nawaz Z. Hassan K, et al. Among authors: nawaz z. Eur J Med Genet. 2020 Oct;63(10):104023. doi: 10.1016/j.ejmg.2020.104023. Epub 2020 Jul 28. Eur J Med Genet. 2020. PMID: 32735948
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V. Ben-Omran T, et al. Among authors: nawaz z. J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14. J Med Genet. 2015. PMID: 25873735
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
Mohammed I, Al-Khawaga S, Bohanna D, Shabani A, Khan F, Love DR, Nawaz Z, Hussain K. Mohammed I, et al. Among authors: nawaz z. Mol Genet Genomic Med. 2020 Jun;8(6):e1086. doi: 10.1002/mgg3.1086. Epub 2020 Apr 11. Mol Genet Genomic Med. 2020. PMID: 32277595 Free PMC article.
211 results