Iram Javed

Faisalabad, PB, Pakistan

Last Updated: 09/26/2026

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Found 10 publications

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Journal: BMC neurology

Published: December 23, 2025

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Journal: Human genomics

Published: August 06, 2025

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Journal: Pediatric research

Published: April 17, 2025

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Journal: Brain : a journal of neurology

Published: September 06, 2024

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.

Journal: Brain : a journal of neurology

Published: September 06, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Journal: Molecular genetics and genomics : MGG

Published: April 14, 2022

Face mask detection and social distance monitoring system for COVID-19 pandemic.

Face mask detection and social distance monitoring system for COVID-19 pandemic.

Journal: Multimedia tools and applications

Published: February 06, 2022

Polymorphism in drug transporter gene ABCB1 is associated with drug resistance in Pakistani epilepsy patients.

Polymorphism in drug transporter gene ABCB1 is associated with drug resistance in Pakistani epilepsy patients.

Journal: Epilepsy research

Published: May 26, 2021

COVID-19 containment and its unrestrained impact on epilepsy management in resource-limited areas of Pakistan.

COVID-19 containment and its unrestrained impact on epilepsy management in resource-limited areas of Pakistan.

Journal: Epilepsy & behavior : E&B

Published: August 06, 2020

Showing 1-10 of 10

Last Updated: 09/26/2026