SN
0000-0002-9575-0722 Employment
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Amrita Institute of Medical Sciences and Research Centre Clinical Professor
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (131)
- Loss of TANGO1 Leads to Absence of Bone Mineralization Save
- Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India. Save
- Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives Save
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia Save
- Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy Save
- Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients Save
- Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth Save
- Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease Save
- Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India Save
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Save