Muzammal M - Search Results

1

Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families.

Ahmed I, Muzammal M, Khan MA, Ullah H, Farid A, Yasin M, Khan J, Alam K, Mir A. Ahmed I, et al. Among authors: muzammal m. Biochem Genet. 2024 Aug;62(4):2571-2586. doi: 10.1007/s10528-023-10556-w. Epub 2023 Nov 20. Biochem Genet. 2024. PMID: 37985543

2

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.

3

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.

4

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.

5

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

6

Genetic basis of ß-thalassemia in families of pashtun ethnicity in Dera Ismail Khan district of Khyber Pakhtun-Khwa province, Pakistan.

Ayaz M, Muzammal M, Siraj S, Fatima S, Fatima S, Khan J, Khan MA, Shah MI, Rehman ZU, Wei L. Ayaz M, et al. Among authors: muzammal m. Expert Rev Hematol. 2023 Jul-Dec;16(9):693-699. doi: 10.1080/17474086.2023.2241639. Epub 2023 Aug 1. Expert Rev Hematol. 2023. PMID: 37491848

7

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.

8

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.

9

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

10

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.

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