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Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.
Mohsenpour N, Roknizadeh H, Maghbooli M, Changi-Ashtiani M, Shahrooei M, Salehi M, Behnam M, Shahani T, Biglari A. Mohsenpour N, et al. Among authors: shahani t. Int J Mol Cell Med. 2019 Summer;8(3):169-178. doi: 10.22088/IJMCM.BUMS.8.3.169. Int J Mol Cell Med. 2019. PMID: 32489946 Free PMC article.
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S, Maleki M, Rokni-Zadeh H, Changi-Ashtiani M, Ahangar H, Biglari A, Shahani T, Mahdieh N. Kalayinia S, et al. Among authors: shahani t. J Clin Lab Anal. 2019 Sep;33(7):e22923. doi: 10.1002/jcla.22923. Epub 2019 May 22. J Clin Lab Anal. 2019. PMID: 31115957 Free PMC article.
55 results