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Year | Number of Results |
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2015 | 1 |
2023 | 5 |
2024 | 1 |
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Page 1
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.
Genes (Basel). 2023 Jan 27;14(2):328. doi: 10.3390/genes14020328.
Genes (Basel). 2023.
PMID: 36833258
Free PMC article.
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.
Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI.
Zaman Q, et al.
Genes (Basel). 2023 Jan 5;14(1):145. doi: 10.3390/genes14010145.
Genes (Basel). 2023.
PMID: 36672886
Free PMC article.
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Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.
Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M.
Zaman Q, et al.
J Gene Med. 2023 Oct;25(10):e3522. doi: 10.1002/jgm.3522. Epub 2023 Apr 29.
J Gene Med. 2023.
PMID: 37119015
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Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Abdulkareem AA, Zaman Q, Khan H, Khan S, Rehman G, Tariq N, Ahmad M, Owais M, Najumuddin, Muthaffar OY, Bibi F, Khang R, Ryu SW, Naseer MI, Jelani M.
Abdulkareem AA, et al. Among authors: zaman q.
Front Genet. 2023 Jun 8;14:1185065. doi: 10.3389/fgene.2023.1185065. eCollection 2023.
Front Genet. 2023.
PMID: 37359369
Free PMC article.
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Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q, Khan J, Ahmad M, Khan H, Chaudhary HT, Rehman G, Rahman OU, Shah MM, Hussain J, Jamal Q, Khan BT, Khan MA, Sadeeda, Sahar K, Idrees M, Ahmad R, Faisal MS, Khan MI, Khisroon M, Abdulkareem AA, Lee E, Ryu SW, Bibi N, Muthaffar OY, Jelani M, Naseer MI.
Zaman Q, et al.
Gene. 2024 Feb 5;894:147986. doi: 10.1016/j.gene.2023.147986. Epub 2023 Nov 11.
Gene. 2024.
PMID: 37956964
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Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.
Ali RH, Mahmood S, Raza SI, Aziz A, Irfanullah, Naqvi SK, Wasif N, Ansar M, Ahmad W, Shah SH, Khan BT, Zaman Q, Gul A, Wali A, Ali G, Khan S, Khisroon M, Basit S.
Ali RH, et al. Among authors: zaman q.
J Dermatol Sci. 2015 Dec;80(3):214-7. doi: 10.1016/j.jdermsci.2015.09.007. Epub 2015 Sep 28.
J Dermatol Sci. 2015.
PMID: 26481779
No abstract available.
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