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Harsh Sheth

Showing results (21-30 of 46) 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.
Frontiers in Genetics|December 20, 2021
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon SequencingKomal M Patel, Arpan D Bhatt, Krati Shah, 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.
Human Fertility (Cambridge, England)|June 30, 2021
Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian malesOsamah Batiha, George J Burghel, Ayesha Alkofahi, 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.
European Journal of Medical Genetics|February 15, 2011
Characterization of sSMC by FISH and molecular techniquesFrenny Sheth, Joris Andrieux, Elisabeth Ewers, et al.
American Journal of Medical Genetics. Part A|February 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read SequencingFrenny Sheth, Jhanvi Shah, Mamta Muranjan, et al.
Gene|November 25, 2022
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian populationBhargav N Waghela, Ramesh J Pandit, Apurvasinh Puvar, et al.
BMC Pediatrics|June 27, 2026
Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
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.
Frontiers in Genetics|December 20, 2021
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon SequencingKomal M Patel, Arpan D Bhatt, Krati Shah, 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.
Human Fertility (Cambridge, England)|June 30, 2021
Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian malesOsamah Batiha, George J Burghel, Ayesha Alkofahi, 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.
European Journal of Medical Genetics|February 15, 2011
Characterization of sSMC by FISH and molecular techniquesFrenny Sheth, Joris Andrieux, Elisabeth Ewers, et al.
American Journal of Medical Genetics. Part A|February 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read SequencingFrenny Sheth, Jhanvi Shah, Mamta Muranjan, et al.
Gene|November 25, 2022
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian populationBhargav N Waghela, Ramesh J Pandit, Apurvasinh Puvar, et al.
BMC Pediatrics|June 27, 2026
Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Pageof 5