Last Updated: 09/26/2026
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Found 13 publications
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.
Journal: Journal of inherited metabolic disease
Published: December 05, 2025
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Journal: Orphanet journal of rare diseases
Published: October 31, 2025
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Journal: Human genomics
Published: March 05, 2024
A Retrospective, Observational Study to Assess the Efficacy, Safety, and Tolerability of Dietary Fiber Supplemental Combination in Overweight or Obese Patients.
Journal: Cureus
Published: November 26, 2021
X linked Infantile Epileptic Encephalopathy due to SMC1A Truncating Mutation.
Journal: Annals of Indian Academy of Neurology
Published: October 17, 2019
Rapid Regeneration of Vascularized Bone by Nanofabricated Amorphous Silicon Oxynitrophosphide (SiONP) Overlays.
Journal: Journal of biomedical nanotechnology
Published: May 11, 2019
Silicon nitride enhances osteoprogenitor cell growth and differentiation via increased surface energy and formation of amide and nanocrystalline HA for craniofacial reconstruction.
Journal: Medical devices & sensors
Published: April 01, 2019
Role of Hydrogen and Nitrogen on the Surface Chemical Structure of Bioactive Amorphous Silicon Oxynitride Films.
Journal: The journal of physical chemistry. B
Published: August 22, 2017
Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy.
Journal: Neurology
Published: February 26, 2017
Amorphous Silica: A New Antioxidant Role for Rapid Critical-Sized Bone Defect Healing.
Journal: Advanced healthcare materials
Published: February 24, 2016
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.
Journal: Indian journal of pediatrics
Published: April 06, 2015
Last Updated: 09/26/2026