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Whole genome sequencing data for two individuals of Pakistani descent.
Khan SY, Kabir F, M'Hamdi O, Jiao X, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: khan sn. Sci Data. 2018 Sep 11;5:180174. doi: 10.1038/sdata.2018.174. Sci Data. 2018. PMID: 30204152 Free PMC article.
Whole genome sequencing data of multiple individuals of Pakistani descent.
Khan SY, Ali M, Lee MW, Ma Z, Biswas P, Khan AA, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: khan aa. Sci Data. 2020 Oct 13;7(1):350. doi: 10.1038/s41597-020-00664-2. Sci Data. 2020. PMID: 33051442 Free PMC article.
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA. Jiao X, et al. Among authors: khan sy, khan ao, khan aa. PLoS One. 2015 Sep 24;10(9):e0137973. doi: 10.1371/journal.pone.0137973. eCollection 2015. PLoS One. 2015. PMID: 26402864 Free PMC article.
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: khan sy, khan ao, khan sn. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: khan sy, khan ao, khan sn. PLoS One. 2016 Dec 9;11(12):e0167562. doi: 10.1371/journal.pone.0167562. eCollection 2016. PLoS One. 2016. PMID: 27936067 Free PMC article.
Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: khan sy. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
125 results