Concepedia

Riddhi Bhavsar

RB

7

Publications

160

Citations

7

H-Index

2015

Active since

Affiliations

KLE Society Hospital(Current)

Sir Ganga Ram Hospital

Centre For Human Genetics

Institute of Human Genetics

Sanjay Gandhi Post Graduate Institute of Medical Sciences

Riddhi Bhavsar is an author at KLE Society Hospital specializing in neurology, medicine, and genetic counseling.

Top concepts

Publications per year

2015–2024

7

Publications

7

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri et al. · BMC Medical Genetics · 2019 · 60 citations · Full text

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Jayesh Sheth, Dhairya Pancholi, Mehul Mistri et al. · BMC Medical Genetics · 2018 · 24 citations · Full text

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar et al. · BMC Neurology · 2018 · 19 citations · Full text

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

Jayesh Sheth, Aadhira Nair, Frenny Sheth et al. · Orphanet Journal of Rare Diseases · 2024 · 17 citations · Full text

Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar et al. · Indian Pediatrics · 2015 · 15 citations

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