Riddhi Bhavsar

发表

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

F. Sheth, J. Sheth, M. Kamate, 2015, Indian Pediatrics.

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

S. Phadke, F. Sheth, J. Sheth, 2018, BMC Medical Genetics.

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population

F. Sheth, J. Sheth, Sudhir Shah, 2019, Neurology India.

Novel LINS1 missense mutation in a family with non‐syndromic intellectual disability

F. Sheth, J. Sheth, G. Ranjan, 2017, American journal of medical genetics. Part A.

The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome

F. Sheth, J. Sheth, H. Sheth, 2022, BMC genomics.

Identification of Missense Mutation Pro77Arg As A Founder Mutation in Morquio-A Syndrome in Indian Gujarati Patel Ethnicity

S. Dubey, F. Sheth, J. Sheth, 2020 .

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

S. Kapoor, S. Phadke, K. Girisha, 2019, BMC Medical Genetics.

Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a review

F. Sheth, S. Trivedi, J. Sheth, 2019, BMC Pediatrics.

Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis

F. Sheth, J. Sheth, Riddhi Bhavsar, 2018, International journal of dermatology.

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

M. Kabra, S. Nampoothiri, N. Gupta, 2018, BMC Neurology.

A Study on Triplet Repeat Expansion Disorders in Western Indian Population

K. Bhatt, F. Sheth, J. Sheth, 2015 .

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

M. Kabra, S. Phadke, K. Girisha, 2020, Journal of Human Genetics.

A case of Raine syndrome presenting with facial dysmorphy and review of literature

F. Sheth, J. Sheth, Riddhi Bhavsar, 2018, BMC Medical Genetics.

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum

F. Sheth, J. Sheth, M. Mistri, 2015, International journal of dermatology.

GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review

F. Sheth, J. Sheth, C. Datar, 2016, BMC Pediatrics.

quantitative and qualitative analysis of urinary glycosaminoglycans gags

F. Sheth, J. Sheth, M. Kamate, 2017 .

Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

F. Sheth, J. Sheth, H. Sheth, 2023, JIMD reports.

An Efficient U-Net Based Deep Convolution Network for Brain Tumour Detection from MRI Image

Bhagirath Prajapati, Riddhi Bhavsar, Krishna H Patel, 2020 .

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

S. Kapoor, S. Phadke, K. Girisha, 2019, BMC Medical Genetics.

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

S. Nampoothiri, F. Sheth, J. Sheth, 2024, Orphanet journal of rare diseases.