Shabbir MI - Search Results

1

FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus.

Arshad MW, Shabbir MI, Asif S, Shahzad M, Leydier L, Rai SK. Arshad MW, et al. Among authors: shabbir mi. Genes (Basel). 2023 Jan 29;14(2):346. doi: 10.3390/genes14020346. Genes (Basel). 2023. PMID: 36833273 Free PMC article.

2

Junctional Epidermolysis Bullosa (Non-Herlitz Type).

Bhinder MA, Arshad MW, Zahoor MY, Shehzad W, Tariq M, Shabbir MI. Bhinder MA, et al. Among authors: shabbir mi. J Coll Physicians Surg Pak. 2017 May;27(5):308-310. J Coll Physicians Surg Pak. 2017. PMID: 28599695

3

Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families.

Arshad MW, Lee Y, Malik MA, Khan J, Khan A, Kareem A, Kang C, Shabbir MI. Arshad MW, et al. Among authors: shabbir mi. J Pak Med Assoc. 2019 Feb;69(2):183-189. J Pak Med Assoc. 2019. PMID: 30804581

4

Genetic analysis with pyrosequencing using loop pipetting and a light dependent resistor.

Iqbal F, Shabbir MI. Iqbal F, et al. Among authors: shabbir mi. Anal Methods. 2021 Nov 4;13(42):5035-5047. doi: 10.1039/d1ay01123e. Anal Methods. 2021. PMID: 34647115

5

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.

Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB. Khan H, et al. Among authors: shabbir mi. Sci Rep. 2024 Apr 22;14(1):9230. doi: 10.1038/s41598-024-57942-x. Sci Rep. 2024. PMID: 38649688 Free PMC article.

6

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Khan SY, et al. Among authors: shabbir mi. Hum Mutat. 2007 May;28(5):417-23. doi: 10.1002/humu.20469. Hum Mutat. 2007. PMID: 17226784

7

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Shabbir MI, et al. J Med Genet. 2006 Aug;43(8):634-40. doi: 10.1136/jmg.2005.039834. Epub 2006 Feb 3. J Med Genet. 2006. PMID: 16459341 Free PMC article.

8

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Khan SY, et al. Among authors: shabbir mi. Hum Genet. 2007 Feb;120(6):789-93. doi: 10.1007/s00439-006-0275-1. Epub 2006 Oct 26. Hum Genet. 2007. PMID: 17066295

9

Genome-Wide Association Study for Fatty Acid Composition in American Angus Cattle.

Dawood M, Kramer LM, Shabbir MI, Reecy JM. Dawood M, et al. Among authors: shabbir mi. Animals (Basel). 2021 Aug 18;11(8):2424. doi: 10.3390/ani11082424. Animals (Basel). 2021. PMID: 34438882 Free PMC article.

10

Hepatic dysfunction in patients infected with dengue virus.

Umar S, Ahmad B, Rana MY, Khan Khattak JZ, Shabbir MI. Umar S, et al. Among authors: shabbir mi. J Coll Physicians Surg Pak. 2014 Jan;24(1):74. J Coll Physicians Surg Pak. 2014. PMID: 24411552 No abstract available.

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