Nuzhat N. Rana
Multan, PB, Pakistan
Last Updated: 09/26/2026
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Found 9 publications
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
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
Journal: Frontiers in molecular neuroscience
Published: May 15, 2023
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Journal: Brain : a journal of neurology
Published: March 08, 2023
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Journal: Life science alliance
Published: August 16, 2022
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Journal: European journal of medical genetics
Published: November 17, 2021
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
Journal: Journal of medical genetics
Published: March 19, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Journal: American journal of human genetics
Published: February 25, 2020
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Journal: Acta neuropathologica
Published: October 25, 2019
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
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Last Updated: 09/26/2026