Muhammad Muzammal

Dera Ismail Khan, KP, Pakistan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Double jeopardy: how BRCA2, TP53, and DNMT3A redefine the link between infertility and cancer risk.

Double jeopardy: how BRCA2, TP53, and DNMT3A redefine the link between infertility and cancer risk.

Journal: Frontiers in cell and developmental biology

Published: February 04, 2026

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

A novel CLPP variant in a Pakistani family with Perrault syndrome associated with recurrent fevers.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: November 20, 2025

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Journal: Frontiers in genetics

Published: September 19, 2025

Lightweight Edge-Aware Feature Extraction for Point-of-Care Health Monitoring.

Lightweight Edge-Aware Feature Extraction for Point-of-Care Health Monitoring.

Journal: IEEE journal of biomedical and health informatics

Published: September 17, 2025

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

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Journal: Neurogenetics

Published: July 01, 2025

Like pashtun like haplogroup.

Like pashtun like haplogroup.

Journal: Nucleosides, nucleotides & nucleic acids

Published: March 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

Current updates on genetic spectrum of usher syndrome.

Current updates on genetic spectrum of usher syndrome.

Journal: Nucleosides, nucleotides & nucleic acids

Published: May 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

Showing 1-12 of 32

Last Updated: 09/26/2026