Muzammal M - Search Results

1

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. 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.

2

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 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. 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

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.

Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. Gul H, et al. Among authors: muzammal m. J Genet. 2021;100:57. J Genet. 2021. PMID: 34470921 Free article.

5

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.

Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, Rehman A, Nawaz H, Halswick J, Rehman SU, Ahmad S, Muzammal M, Muhammad N, Jan A, Khan S, Windpassinger C, Khan MA. Hussain S, et al. Among authors: muzammal m. Biotechnol Appl Biochem. 2022 Dec;69(6):2296-2303. doi: 10.1002/bab.2286. Epub 2021 Dec 10. Biotechnol Appl Biochem. 2022. PMID: 34826358

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. 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

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: muzammal m. Genes (Basel). 2022 Apr 11;13(4):672. doi: 10.3390/genes13040672. Genes (Basel). 2022. PMID: 35456478 Free PMC article.

8

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.

Muzammal M, Di Cerbo A, Almusalami EM, Farid A, Khan MA, Ghazanfar S, Al Mohaini M, Alsalman AJ, Alhashem YN, Al Hawaj MA, Alsaleh AA. Muzammal M, et al. Genes (Basel). 2022 Apr 15;13(4):698. doi: 10.3390/genes13040698. Genes (Basel). 2022. PMID: 35456504 Free PMC article.

9

The molecular genetics of human appendicular skeleton.

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA. Ahmad S, et al. Among authors: muzammal m. 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

10

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. Among authors: muzammal m. Genes (Basel). 2023 Apr 5;14(4):869. doi: 10.3390/genes14040869. Genes (Basel). 2023. PMID: 37107627 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

25 results

Search Page