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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849.
Invest Ophthalmol Vis Sci. 2018.
PMID: 30208423
Free PMC article.
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C.
Saqib MA, et al. Among authors: jarral a.
Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965.
Sci Rep. 2015.
PMID: 25943428
Free PMC article.
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Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S.
Basharat R, et al. Among authors: jarral a.
Exp Eye Res. 2024 Jul;244:109945. doi: 10.1016/j.exer.2024.109945. Epub 2024 May 28.
Exp Eye Res. 2024.
PMID: 38815792
Free article.
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Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat R, Rodenburg K, Rodríguez-Hidalgo M, Jarral A, Ullah E, Corominas J, Gilissen C, Zehra ST, Hameed U, Ansar M, de Bruijn SE.
Basharat R, et al. Among authors: jarral a.
Genes (Basel). 2023 Aug 1;14(8):1573. doi: 10.3390/genes14081573.
Genes (Basel). 2023.
PMID: 37628625
Free PMC article.
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