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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP. Maria M, et al. PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015. PLoS One. 2015. PMID: 25775262 Free PMC article.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Among authors: maria m. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani population.
Khan N, Paterson AD, Roshandel D, Maqbool S, Fazal N, Ali L, Khurram R, Ijaz Maqsood S, Hafiza Benish Ali S, Khan H, Tariq K, Bano S, Azam A, Muslim I, Maria M, Agha Z, Babar M, Khalida Waheed N, Azam M, Qamar R. Khan N, et al. Among authors: maria m. Gene. 2023 Jan 10;848:146899. doi: 10.1016/j.gene.2022.146899. Epub 2022 Sep 17. Gene. 2023. PMID: 36126820
Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene.
Valtola K, Nino-Quintero J, Hedman M, Lottonen-Raikaslehto L, Laitinen T, Maria M, Kantola I, Naukkarinen A, Laakso M, Kuusisto J. Valtola K, et al. Among authors: maria m. Heart. 2020 Apr;106(8):609-615. doi: 10.1136/heartjnl-2019-315933. Epub 2020 Jan 16. Heart. 2020. PMID: 31949022 Free PMC article.
502 results