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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: khan s, khan r, khan tn. 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
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: khan r, khan tn. 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
Cerebellar Mutism Syndrome and Dentato-Thalamo-Cortical Tract Disruption in Diffusion Tractography Following Surgery for Medulloblastoma.
Ji Q, McAfee SS, Scoggins M, Holtrop J, Glass JO, Yuan X, Liang J, Li Y, Chiang J, Orr BA, Edwards A, Storment D, Brinkman T, Robinson GW, Gajjar A, Reddick WE, Patay Z, Khan RB, Bag AK. Ji Q, et al. Among authors: khan rb. Radiology. 2024 May;311(2):e232521. doi: 10.1148/radiol.232521. Radiology. 2024. PMID: 38742969
4,594 results