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Page 1
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
A practical approach to universal health coverage.
Mukherjee JS, Mugunga JC, Shah A, Leta A, Birru E, Oswald C, Jerome G, Almazor CP, Satti H, Yates R, Atun R, Rhatigan J, Gottlieb G, Farmer PE. Mukherjee JS, et al. Among authors: satti h. Lancet Glob Health. 2019 Apr;7(4):e410-e411. doi: 10.1016/S2214-109X(19)30035-X. Lancet Glob Health. 2019. PMID: 30879502 Free article. No abstract available.
Epidemiology of aplastic anemia: a study of 1324 cases.
Ahmed P, Chaudhry QUN, Satti TM, Mahmood SK, Ghafoor T, Shahbaz N, Khan MA, Satti HS, Akram Z, Iftikhar R. Ahmed P, et al. Among authors: satti hs. Hematology. 2020 Dec;25(1):48-54. doi: 10.1080/16078454.2019.1711344. Hematology. 2020. PMID: 31906834 Free article.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN. Khan K, et al. Among authors: satti hs. Am J Med Genet A. 2022 Feb;188(2):498-508. doi: 10.1002/ajmg.a.62545. Epub 2021 Oct 25. Am J Med Genet A. 2022. PMID: 34697879
46 results