Samarth Kulshrestha

Sir Ganga Ram Hospital - New Delhi / India

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 5594781

सर गंगा राम अस्पताल

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Sir Ganga Ram Hospital

Samarth Kulshrestha's MOST POPULAR ARTICLES

1-) Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases The American Journal of Human Genetics 105 (2), 384-394, 2019

2-) A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians Human Mutation, 2021

3-) NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results–a pilot study

4-) Genetic analysis of familial hypercholesterolemia in Asian Indians: a single center study Journal of Clinical Lipidology, 2020

5-) Mutation burden profile in familial Alzheimer's disease cases from India Neurobiology of Aging 64, 158. e7-158. e13, 2018

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