Employment
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Kasturba Medical College Assistant Professor2022 - Present
Education
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Kasturba Medical College Doctorate of Medicine2019 - 2022
Projects & Funding
Projects & funding information is unavailable.
Publications (6)
- Adult presentation of Simpson-Golabi-Behmel syndrome due to a hemizygous GPC3 stopgain variant mimicking acromegaly Save
- Bi‐Allelic Splicing Variant, c.153‐2A > C in TOMM7 Is Associated With Leigh Syndrome Save
- Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy Save
- Further delineation of KIF21B-related neurodevelopmental disorders Save
- Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Save
- Report of rapid diagnosis and precise management of MMADHC- related intracellular cobalamin defect Save