Associated Papers
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.
Yang X et al.
Scientific Reports, 2017
29142202 (PubMed )
Supplement: 41598_2017_15814_MOESM1_ESM.pdf
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H et al.
Neurology India, 0
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