Drug-resistant ‘Non-Lesional’ Visual Sensitive Epilepsies of Childhood – Electroclinical Phenotype-Genotype Associations December 25, 2021
Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report November 28, 2021
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort November 26, 2021
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene October 8, 2021
Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center October 4, 2021
Initial experience and results of a cardiogenetic clinic in a tertiary cardiac care center in India August 26, 2021
Maternal opioid use disorder: Placental transcriptome analysis for neonatal opioid withdrawal syndrome August 3, 2021
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review July 29, 2021
