Ahmad S - Search Results

1

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: ahmad s. 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.

2

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Ali MZ, Blatterer J, Khan MA, Schaflinger E, Petek E, Ahmad S, Khan E, Windpassinger C. Ali MZ, et al. Among authors: ahmad s. Mol Genet Genomic Med. 2020 Feb;8(2):e1060. doi: 10.1002/mgg3.1060. Epub 2020 Jan 10. Mol Genet Genomic Med. 2020. PMID: 31923348 Free PMC article.

3

Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.

Muzammal M, Ahmad S, Ali MZ, Khan MA. Muzammal M, et al. Among authors: ahmad s. Ann Hum Genet. 2021 Sep;85(5):147-154. doi: 10.1111/ahg.12425. Epub 2021 Apr 21. Ann Hum Genet. 2021. PMID: 33881165 Review.

4

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Muzammal M, Ali MZ, Brugger B, Blatterer J, Ahmad S, Taj S, Shah SK, Khan S, Enzinger C, Petek E, Wagner K, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: ahmad s. Metab Brain Dis. 2022 Jan;37(1):243-252. doi: 10.1007/s11011-021-00832-2. Epub 2021 Nov 1. Metab Brain Dis. 2022. PMID: 34719772 Free PMC article.

5

In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene.

Ali MZ, Farid A, Ahmad S, Muzammal M, Mohaini MA, Alsalman AJ, Al Hawaj MA, Alhashem YN, Alsaleh AA, Almusalami EM, Maryam M, Khan MA. Ali MZ, et al. Among authors: ahmad s. Genes (Basel). 2022 Apr 11;13(4):672. doi: 10.3390/genes13040672. Genes (Basel). 2022. PMID: 35456478 Free PMC article.

6

The molecular genetics of human appendicular skeleton.

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA. Ahmad S, et al. Mol Genet Genomics. 2022 Sep;297(5):1195-1214. doi: 10.1007/s00438-022-01930-1. Epub 2022 Jul 30. Mol Genet Genomics. 2022. PMID: 35907958

7

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Ahmad S, Ali MZ, Abbasi SW, Abbas S, Ahmed I, Abbas S, Nawaz S, Ziab M, Ahmed I, Fakhro KA, Khan MA, Akil AA. Ahmad S, et al. Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36960394 Free PMC article.

8

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.

Ahmad S, Ali MZ, Muzammal M, Khan AU, Ikram M, Muurinen M, Hussain S, Loid P, Khan MA, Mäkitie O. Ahmad S, et al. Genes (Basel). 2023 Apr 5;14(4):869. doi: 10.3390/genes14040869. Genes (Basel). 2023. PMID: 37107627 Free PMC article.

9

Current updates on genetic spectrum of usher syndrome.

Ullah F, Zeeshan Ali M, Ahmad S, Muzammal M, Khan S, Khan J, Ahmad Khan M. Ullah F, et al. Among authors: ahmad khan m, ahmad s. Nucleosides Nucleotides Nucleic Acids. 2024 May 8:1-24. doi: 10.1080/15257770.2024.2344194. Online ahead of print. Nucleosides Nucleotides Nucleic Acids. 2024. PMID: 38718411 Review.

10

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.

Ahmad S, Muurinen M, Loid P, Ali MZ, Muzammal M, Fatima S, Khan J, Khan MA, Mäkitie O. Ahmad S, et al. Bone Rep. 2024 Jul 15;22:101789. doi: 10.1016/j.bonr.2024.101789. eCollection 2024 Sep. Bone Rep. 2024. PMID: 39540058 Free PMC article.

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