Farah Bibi

Mehr Ali, PB, Pakistan

Last Updated: 09/26/2026

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Found 11 publications

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

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Journal: American journal of human genetics
Published: March 27, 2022

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Journal: Human mutation
Published: July 27, 2021

Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Journal: Klinische Padiatrie
Published: May 10, 2021

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Journal: Klinische Padiatrie
Published: April 08, 2021

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2020

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

Journal: Clinical dysmorphology
Published: August 29, 2020

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Journal: Annals of clinical and translational neurology
Published: June 25, 2020

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.

Journal: Journal of the neurological sciences
Published: September 25, 2019

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Journal: American journal of human genetics
Published: June 04, 2019

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.

Journal: Frontiers in neuroscience
Published: May 27, 2019
Showing 1-11 of 11

Last Updated: 09/26/2026