Saqib Mahmood

Khayaban E-Jamia Punjab Street
Lahore, PB 54600, Pakistan

Last Updated: 09/26/2026

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Found 39 publications

Prevalence of F8 Intron 22 Inversion in Severe Haemophilia A: Molecular Insights From a Cohort of Punjab Province of Pakistan.

Prevalence of F8 Intron 22 Inversion in Severe Haemophilia A: Molecular Insights From a Cohort of Punjab Province of Pakistan.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: March 13, 2026

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Journal: Scientific reports

Published: June 12, 2025

Facial morphology analysis of children with non-syndromic cleft lip and palate in a local population.

Facial morphology analysis of children with non-syndromic cleft lip and palate in a local population.

Journal: Pakistan journal of medical sciences

Published: August 22, 2023

Positive effect of leptin substitution on mood and behaviour in patients with congenital leptin deficiency.

Positive effect of leptin substitution on mood and behaviour in patients with congenital leptin deficiency.

Journal: Pediatric obesity

Published: October 12, 2022

DAD-Net: Classification of Alzheimer's Disease Using ADASYN Oversampling Technique and Optimized Neural Network.

DAD-Net: Classification of Alzheimer's Disease Using ADASYN Oversampling Technique and Optimized Neural Network.

Journal: Molecules (Basel, Switzerland)

Published: August 03, 2022

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

Journal: Genes

Published: August 02, 2022

A Robust Deep Model for Classification of Peptic Ulcer and Other Digestive Tract Disorders Using Endoscopic Images.

A Robust Deep Model for Classification of Peptic Ulcer and Other Digestive Tract Disorders Using Endoscopic Images.

Journal: Biomedicines

Published: July 14, 2022

PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study.

PNPLA3 and TM6SF2 genetic variants and hepatic fibrosis and cirrhosis in Pakistani chronic hepatitis C patients: a genetic association study.

Journal: BMC gastroenterology

Published: May 12, 2022

Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan.

Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan.

Journal: Pakistan journal of medical sciences

Published: May 03, 2022

Role of matrix metalloproteinases in mitral valve regurgitation: Association between the of MMP-1, MMP-9, TIMP-1, and TIMP-2 expression, degree of mitral valve insufficiency, and pathologic etiology.

Role of matrix metalloproteinases in mitral valve regurgitation: Association between the of MMP-1, MMP-9, TIMP-1, and TIMP-2 expression, degree of mitral valve insufficiency, and pathologic etiology.

Journal: Journal of cardiac surgery

Published: January 19, 2022

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Journal: Genes

Published: January 16, 2022

Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in β-thalassemia major and Intermedia patients.

Modulatory effect of single nucleotide polymorphism in Xmn1, BCL11A and HBS1L-MYB loci on foetal haemoglobin levels in β-thalassemia major and Intermedia patients.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: June 06, 2021

Showing 1-12 of 39

Last Updated: 09/26/2026