Associated Papers
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.
Biglari S et al.
Human Genetics, 2026
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Select a paper to view details