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Jayesh Sheth

Showing results (51-60 of 80) with videos related to

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BMC Pediatrics|March 24, 2023
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and reviewJayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
Neurology India|January 4, 2022
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian PopulationHarsh Sheth, Dhairya Pancholi, Riddhi Bhavsar, et al.
JMIR Public Health and Surveillance|February 3, 2022
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology StudyRama Vaidya, Ashok D B Vaidya, Jayesh Sheth, et al.
Molecular Cytogenetics|November 14, 2009
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case reportFrenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2011
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in IndiaKoumudi Godbole, Panjalingam Gayathri, Smita Ghule, et al.
Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facilityJayesh Sheth, Mehul Mistri, Frenny Sheth, et al.
BMC Medical Genomics|August 20, 2025
Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in IndiaJhanvi Shah, Debasrija Mondal, Deepika Jain, et al.
BMC Neurology|December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patientsJayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
Pageof 8

Showing results (51-60 of 80) with videos related to

Sort By:
Pageof 8
BMC Pediatrics|March 24, 2023
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and reviewJayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
Neurology India|January 4, 2022
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian PopulationHarsh Sheth, Dhairya Pancholi, Riddhi Bhavsar, et al.
JMIR Public Health and Surveillance|February 3, 2022
Vitamin K Insufficiency in the Indian Population: Pilot Observational Epidemiology StudyRama Vaidya, Ashok D B Vaidya, Jayesh Sheth, et al.
Molecular Cytogenetics|November 14, 2009
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case reportFrenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|July 20, 2011
Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in IndiaKoumudi Godbole, Panjalingam Gayathri, Smita Ghule, et al.
Journal of Human Genetics|August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of IndiaMehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
JIMD Reports|July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facilityJayesh Sheth, Mehul Mistri, Frenny Sheth, et al.
BMC Medical Genomics|August 20, 2025
Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in IndiaJhanvi Shah, Debasrija Mondal, Deepika Jain, et al.
BMC Neurology|December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patientsJayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
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