Najwa Anwar
Lahore, PB 54000, Pakistan
Last Updated: 09/26/2026
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Found 8 publications
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Journal: Brain : a journal of neurology
Published: April 18, 2023
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: December 03, 2021
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Journal: European journal of medical genetics
Published: November 17, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: May 13, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: January 23, 2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Journal: American journal of medical genetics. Part A
Published: January 12, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: July 24, 2020
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
Showing 1-8 of 8
Last Updated: 09/26/2026