Saba Irshad

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 10 publications

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.

Journal: Molecular biology reports

Published: October 19, 2025

COVID-19: A threat to the respiratory system.

COVID-19: A threat to the respiratory system.

Journal: International journal of immunopathology and pharmacology

Published: December 23, 2024

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Journal: BMC genomics

Published: October 23, 2023

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Journal: Journal of human genetics

Published: October 12, 2022

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Journal: Molecular genetics & genomic medicine

Published: December 17, 2021

Congenital cataract: An ocular manifestation of classical homocystinuria.

Congenital cataract: An ocular manifestation of classical homocystinuria.

Journal: Molecular genetics & genomic medicine

Published: April 10, 2021

Analysis of Putative Epitope Candidates of Mycobacterium tuberculosis Against Pakistani Human Leukocyte Antigen Background: An Immunoinformatic Study for the Development of Future Vaccine.

Analysis of Putative Epitope Candidates of Mycobacterium tuberculosis Against Pakistani Human Leukocyte Antigen Background: An Immunoinformatic Study for the Development of Future Vaccine.

Journal: International journal of peptide research and therapeutics

Published: August 22, 2020

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Journal: Molecular genetics & genomic medicine

Published: January 30, 2020

Curcuma longa (Turmeric): An auspicious spice for antibacterial, phytochemical and antioxidant activities.

Curcuma longa (Turmeric): An auspicious spice for antibacterial, phytochemical and antioxidant activities.

Journal: Pakistan journal of pharmaceutical sciences

Published: December 28, 2018

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

Journal: Annals of neurology

Published: May 09, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026