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Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
Clin Genet. 2021 Jan;99(1):176-186. doi: 10.1111/cge.13866. Epub 2020 Nov 2.
Clin Genet. 2021.
PMID: 33070343
Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.
Hussain HMJ, Murtaza G, Jiang X, Khan R, Khan M, Kakakhel MBS, Khan T, Wahab F, Zhang H, Zhang Y, Khan MB, Ahmed P, Ma H, Xu Z.
Hussain HMJ, et al. Among authors: kakakhel mbs.
Horm Res Paediatr. 2019;91(1):9-16. doi: 10.1159/000497114. Epub 2019 Apr 4.
Horm Res Paediatr. 2019.
PMID: 30947225
Clinical Trial.
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A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
Zhou J, Zhang B, Zeb A, Ma A, Chen J, Zhao D, Rahim F, Khan R, Zhang H, Zhang Y, Khan I, Kakakhel MBS, Khan A, Shah W, Jiang X, Zhang F, Yang X, Xiao J, Xu B, Ma H, Shi Q.
Zhou J, et al. Among authors: kakakhel mbs.
Clin Genet. 2023 Nov;104(5):564-570. doi: 10.1111/cge.14383. Epub 2023 Jun 7.
Clin Genet. 2023.
PMID: 37286336
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