0000-0001-5929-745X Employment
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Publications (24)
- Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts Save
- Quality Issues in Medical Genetics Laboratories: “What a Clinician Needs to Know?” Save
- A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7 Save
- Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey Save
- Kennedy's disease from India: An Indian Cohort with multisystemic manifestations Save
- Carrier Screening for Genetic Disorders: Recommendations by the Society for Indian Academy of Medical Genetics Save
- Short stature and dysmorphic features in Asian Indian siblings with DAAM2‐associated steroid‐resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype? Save
- Two sisters with RSPRY1‐related spondyloepimetaphyseal dysplasia Save
- PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient Save
- Basan syndrome in a family from South India: a novel SMARCAD1 variant Save