Pakeeza A. Shaiq

Rawalpindi, PB 46000, Pakistan

Last Updated: 09/26/2026

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Found 13 publications

Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan.

Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan.

Journal: Genes

Published: December 29, 2025

Bi-allelic mutations of CAMSAP1 result in teratozoospermia with sperm head and flagella defects in humans.

Bi-allelic mutations of CAMSAP1 result in teratozoospermia with sperm head and flagella defects in humans.

Journal: Human reproduction (Oxford, England)

Published: November 25, 2025

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.

Journal: Epilepsy research

Published: October 04, 2023

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families.

Journal: Genes

Published: April 13, 2023

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.

Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy.

Journal: Seizure

Published: February 08, 2023

Differential Treatment Responses in Pakistani Schizophrenia Samples: Correlation with Sociodemographic Parameters, Drug Addiction, Attitude to the Treatment and Antipsychotic Agents.

Differential Treatment Responses in Pakistani Schizophrenia Samples: Correlation with Sociodemographic Parameters, Drug Addiction, Attitude to the Treatment and Antipsychotic Agents.

Journal: Brain sciences

Published: January 12, 2023

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.

Journal: Genes

Published: October 30, 2022

Demographic and Clinical Determinants of Tuberculosis and TB Recurrence: A Double-Edged Retrospective Study from Pakistan.

Demographic and Clinical Determinants of Tuberculosis and TB Recurrence: A Double-Edged Retrospective Study from Pakistan.

Journal: Journal of tropical medicine

Published: May 18, 2022

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Journal: HGG advances

Published: December 20, 2021

Association study of Apolipoprotein A5 gene (APOA5 gene) variant with the metabolic syndrome in local Pakistani population.

Association study of Apolipoprotein A5 gene (APOA5 gene) variant with the metabolic syndrome in local Pakistani population.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: March 21, 2019

A single SNP surrogate for genotyping HLA-C*06:02 in diverse populations.

A single SNP surrogate for genotyping HLA-C*06:02 in diverse populations.

Journal: The Journal of investigative dermatology

Published: December 11, 2014

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Journal: BMC medical genetics

Published: March 13, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026