Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
Mu W et al.
Journal of Neurogenetics, 2019
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Alabdullatif MA et al.
Clinical Genetics, 2017
Corpus callosum abnormalities: neuroradiological and clinical correlations.
Al-Hashim AH et al.
Developmental Medicine and Child Neurology, 2016
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Rius R et al.
Neurology India, 0
Select a paper to view details