AB
0000-0001-5486-4267 Employment
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Post Graduate Institute of Medical Education and Research D.M. Fellow2019 - Present
Education
Education history is unavailable.
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Publications (75)
- Founder Effect of the c.500G>A Variant in South Asian Patients With Inherited GPD1 Deficiency: Report on 16 Patients and Variant Review Save
- Nuances of Genetic Diagnosis, Variant Interpretation, and Targeted Molecular Testing in Limited‐Resource Settings: Lessons From Inherited Glycerol‐3‐Phosphate Dehydrogenase 1 Deficiency Save
- Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant – a case-based review and variant analysis Save
- Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations– Are Genotype-Phenotype Correlations Emerging? Save
- Partial STX11 deficiency due to a hypomorphic variant—self-limiting inflammatory disease preceding HLH onset Save
- The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency — a Comparative Analysis Save
- Griscelli Syndrome Type 2 Secondary to a Novel RAB27A Variant Presenting With Dermatitis Save
- Early Atherosclerosis in Pediatric Systemic Lupus Erythematosus: A Systematic Review and Meta‐Analysis Save
- Genotype–phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant Save
- Microvascular changes on nailfold capillaroscopy in acute stage of Kawasaki disease: a new diagnostic paradigm for an enigmatic condition Save