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Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi TUK, Fatima A, Satti HS, Akram Z, Yousafzai IK, Naeem WB, Fatima N, Ali A, Iqbal Z, Khan A, Shahzad M, Liu C, Toft M, Zhang F, Tariq M, Davis EE, Khan TN. Afridi TUK, et al. Among authors: satti hs. Mol Genet Genomics. 2024 May 21;299(1):55. doi: 10.1007/s00438-024-02149-y. Mol Genet Genomics. 2024. PMID: 38771357
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN, Liu C. Khan A, et al. Among authors: satti hs. Mol Genet Genomics. 2022 Nov;297(6):1601-1613. doi: 10.1007/s00438-022-01945-8. Epub 2022 Aug 24. Mol Genet Genomics. 2022. PMID: 36002593
Distribution of antiretroviral therapy through private pharmacies and postal courier services during COVID-19 in Botswana: acceptability and reach of two out-of-facility individual differentiated service delivery models.
Mpofu M, Moyo T, Gilbert M, Dikobe W, Nishimoto L, Katiko G, Batuka J, Satti H, Qambayot M, Mahler H, Kitso L, Marqusee H, Bateganya M. Mpofu M, et al. Among authors: satti h. J Int AIDS Soc. 2021 Oct;24 Suppl 6(Suppl 6):e25814. doi: 10.1002/jia2.25814. J Int AIDS Soc. 2021. PMID: 34713589 Free PMC article.
46 results