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2017 4
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Page 1
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Nawaz H, Parveen A, Khan SA, Zalan AK, Khan MA, Muhammad N, Hassib NF, Mostafa MI, Elhossini RM, Roshdy NN, Ullah A, Arif A, Khan S, Ammerpohl O, Wasif N. Nawaz H, et al. Among authors: khan sa. Heliyon. 2023 Dec 14;10(1):e23688. doi: 10.1016/j.heliyon.2023.e23688. eCollection 2024 Jan 15. Heliyon. 2023. PMID: 38192829 Free PMC article.
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.
Muhammad N, Hussain SI, Rehman ZU, Khan SA, Jan S, Khan N, Muzammal M, Abbasi SW, Kakar N, Rehman ZU, Khan MA, Mirza MU, Muhammad N, Khan S, Wasif N. Muhammad N, et al. Among authors: khan sa. Front Neurol. 2023 May 25;14:1168307. doi: 10.3389/fneur.2023.1168307. eCollection 2023. Front Neurol. 2023. PMID: 37305761 Free PMC article.
Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.
Fozia F, Nazli R, Alrashed MM, Ghneim HK, Haq ZU, Jabeen M, Alam Khan S, Ahmad I, Bourhia M, Aboul-Soud MAM. Fozia F, et al. Among authors: alam khan s. Diagnostics (Basel). 2022 Jun 23;12(7):1525. doi: 10.3390/diagnostics12071525. Diagnostics (Basel). 2022. PMID: 35885431 Free PMC article.
21 results