Khan A - Search Results

1

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X. Yu X, et al. Among authors: khan a. Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316. Chin Med J (Engl). 2019. PMID: 31261205 Free PMC article. No abstract available.

2

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.

Khan A, Wang R, Han S, Ahmad W, Zhang X. Khan A, et al. Hum Genome Var. 2017 Dec 14;4:17054. doi: 10.1038/hgv.2017.54. eCollection 2017. Hum Genome Var. 2017. PMID: 29263794 Free PMC article.

3

Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing.

Wang R, Khan A, Han S, Zhang X. Wang R, et al. Among authors: khan a. J Hum Genet. 2017 Feb;62(2):299-304. doi: 10.1038/jhg.2016.128. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784895

4

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Wang R, Han S, Khan A, Zhang X. Wang R, et al. Among authors: khan a. Genet Test Mol Biomarkers. 2017 May;21(5):316-321. doi: 10.1089/gtmb.2016.0328. Epub 2017 Mar 10. Genet Test Mol Biomarkers. 2017. PMID: 28281779 Free PMC article.

5

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Khan A, Wang R, Han S, Ahmad W, Zhang X. Khan A, et al. Genet Test Mol Biomarkers. 2018 Mar;22(3):159-164. doi: 10.1089/gtmb.2017.0229. Epub 2018 Feb 12. Genet Test Mol Biomarkers. 2018. PMID: 29431480

6

Biallelic variants in four genes underlying recessive osteogenesis imperfecta.

Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: khan b, khan a, khan f. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570

7

A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report.

Khan N, Ashraf MU, Khan S, Khan A, Shahzad H, Habib M, Kamal A. Khan N, et al. Among authors: khan a. Clin Case Rep. 2025 Jan 16;13(1):e70116. doi: 10.1002/ccr3.70116. eCollection 2025 Jan. Clin Case Rep. 2025. PMID: 39822882 Free PMC article.

8

Detection of genomic variants in BRCA1 and BRCA2 across gastric cancer patients using next generation sequencing.

Li F, Abdel-Maksoud MA, Ullah T, Ul Haq M, Khan A, Olatunji AO, Khatab Abbasi BB, Saleh IA, Rather MN, Al-Hawadi JS, Zomot N, Musaed Almutairi S, Naz R. Li F, et al. Among authors: khan a. Am J Transl Res. 2024 Dec 15;16(12):7898-7910. doi: 10.62347/MRIE2131. eCollection 2024. Am J Transl Res. 2024. PMID: 39822496 Free PMC article.

9

Exploring Neurohormonal Modulation by Acetazolamide in Heart Failure.

Asif M, Malik F, Khan AS, Zainab S, Ali M, Shah I, Ahmad Mughal M, Avinash F, Kirshan Kumar S. Asif M, et al. Among authors: khan as. Cureus. 2024 Dec 16;16(12):e75786. doi: 10.7759/cureus.75786. eCollection 2024 Dec. Cureus. 2024. PMID: 39822403 Free PMC article.

10

Paediatric Acute Urinary Retention in Central Queensland.

Nasr S, Lim JY, Nugapitiya SS, Yu D, Khan A, Pam S. Nasr S, et al. Among authors: khan a. J Paediatr Child Health. 2025 Jan 17. doi: 10.1111/jpc.16779. Online ahead of print. J Paediatr Child Health. 2025. PMID: 39821927

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