Fatima Rahman

Lahore, PB, Pakistan

Last Updated: 09/26/2026

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Found 28 publications

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

Innovative Nanotechnology and Molecular Probes for Real-time Monitoring and Therapeutic Modulation of Pyroptosis in Cancer and Inflammatory Diseases.

Innovative Nanotechnology and Molecular Probes for Real-time Monitoring and Therapeutic Modulation of Pyroptosis in Cancer and Inflammatory Diseases.

Journal: Cell biochemistry and biophysics

Published: August 05, 2025

Associations between clinical, biochemical, and nutritional factors in kidney stone formation and recurrence.

Associations between clinical, biochemical, and nutritional factors in kidney stone formation and recurrence.

Journal: Urolithiasis

Published: February 22, 2025

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).

Journal: Molecular biology reports

Published: September 20, 2024

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Journal: European journal of human genetics : EJHG

Published: July 12, 2024

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: May 16, 2024

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

SLK is mutated in individuals with a neurodevelopmental disorder.

SLK is mutated in individuals with a neurodevelopmental disorder.

Journal: EBioMedicine

Published: March 12, 2024

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

Journal: Clinical genetics

Published: December 20, 2023

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.

Journal: Brain : a journal of neurology

Published: April 18, 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

Showing 1-12 of 28

Last Updated: 09/26/2026