0000-0002-7166-3181 Employment
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MediScan Systems Consultant Geneticist2011 - Present
Education
Education history is unavailable.
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Publications (11)
- Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family Save
- Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure Save
- Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2 Save
- Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario Save
- Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta Save
- A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) Save
- Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases Save
- Outcome of Antenatally Diagnosed Cardiac Rhabdomyoma: Case Series from a Tertiary Fetal Medicine Center in India Save
- Molecular Genetic Testing for Carrier - Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1 Save
- Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene Save