0000-0003-2694-6147 Employment
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Sir Ganga Ram Hospital Chairperson and Professor
Education
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Sir Ganga Ram Hospital MD (Pediatrcs) DM (Medical Genetics)
Projects & Funding
Projects & funding information is unavailable.
Publications (195)
- Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Save
- Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee Save
- Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India Save
- Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations Save
- Next-Generation Sequencing in Unexplained Intellectual Disability Save
- Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva Save
- Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature Save
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder Save
- Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force Save
- The molecular landscape of oculocutaneous albinism in India and its therapeutic implications Save