Muhammad Z. Ali

Dera Ismail Khan, KP 29050, Pakistan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 18 publications

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Journal: Molecular biology reports

Published: March 04, 2026

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Journal: Journal of genetics

Published: August 13, 2025

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Journal: Neurogenetics

Published: July 25, 2025

Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family.

Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani family.

Journal: International journal of ophthalmology

Published: March 11, 2025

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.

Journal: Genetics and molecular biology

Published: February 13, 2025

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

Identification of a Protein-truncating Variant in SCAPER Gene Causing Syndromic form of Intellectual Disability.

Journal: Current medicinal chemistry

Published: November 08, 2024

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

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

Journal: Bone reports

Published: May 03, 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

Journal: Frontiers in genetics

Published: April 23, 2024

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

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

Journal: Genes

Published: March 06, 2023

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

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

Journal: Frontiers in endocrinology

Published: October 10, 2022

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

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

Journal: Genes

Published: February 06, 2022

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

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

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: January 02, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026