Khan MA - Search Results

1

Clinical Biomarkers for Diagnosis of Damages in Individuals with Long-Term Exposure to X-Rays.

Rehman K, Mustafa G, Khan MA, Rauf Z, Khan N, Khan S. Rehman K, et al. Among authors: khan s, khan n, khan ma. J Coll Physicians Surg Pak. 2019 Jul;29(7):616-620. doi: 10.29271/jcpsp.2019.07.616. J Coll Physicians Surg Pak. 2019. PMID: 31253210

2

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.

Abbas S, Brugger B, Zubair M, Gul S, Blatterer J, Wenninger J, Rehman K, Tatrai B, Khan MA, Windpassinger C. Abbas S, et al. Among authors: khan ma. Neurol Res. 2021 Feb;43(2):133-140. doi: 10.1080/01616412.2020.1831329. Epub 2020 Nov 27. Neurol Res. 2021. PMID: 33246395

3

Expression analysis of tumour necrosis factor alpha (TNF-α) and alkaline phosphatase in occupational workers exposed to low dose of X-radiation: A case-control study.

Rehman K, Mustafa G, Ayub H, Ullah I, Alam MR, Khan MA. Rehman K, et al. Among authors: khan ma. J Pak Med Assoc. 2020 Nov;70(11):1887-1896. doi: 10.5455/JPMA.10644. J Pak Med Assoc. 2020. PMID: 33341825 Free article.

4

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: khan ma. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786

5

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Gul H, Ali MZ, Khan E, Zubair M, Badar M, Khan S, Shah AH, Khan MA. Gul H, et al. Among authors: khan s, khan e, khan ma. J Pak Med Assoc. 2017 May;67(5):790-792. J Pak Med Assoc. 2017. PMID: 28507374

6

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. Among authors: khan s, khan ma. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.

7

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.

Khan S, Khan AK, Hamid M, Nazif M, Abbas M, Khan SA, Khan B, Khan MA, Jan A, Khattak B, Ullah W, Muhammad N. Khan S, et al. Among authors: khan b, khan ma, khan sa, khan ak. J Pak Med Assoc. 2020 Jan;70(1):143-146. doi: 10.5455/JPMA.9200. J Pak Med Assoc. 2020. PMID: 31954040 Free article.

8

Comment on homozygosity mapping of a consanguineous Pakistani family affected with oculocutaneous albinism to Tyrosinase gene.

Khan MA. Khan MA. Int J Ophthalmol. 2017 May 18;10(5):826. doi: 10.18240/ijo.2017.05.29. eCollection 2017. Int J Ophthalmol. 2017. PMID: 28546946 Free PMC article. No abstract available.

9

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Among authors: khan ma. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.

10

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

Ahmed J, Windpassinger C, Salim M, Wiener M, Petek E, Schaflinger E, Taj S, Hussain S, Abbas S, Abbas M, Younis I, Muhammad N, Khan S, Khan MA. Ahmed J, et al. Among authors: khan s, khan ma. J Pak Med Assoc. 2019 Dec;69(12):1812-1816. doi: 10.5455/JPMA.300681. J Pak Med Assoc. 2019. PMID: 31853109

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