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Jhanvi Shah

Showing results (1-10 of 14) with videos related to

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BMC Pediatrics|March 7, 2021
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case reportShruti Bajaj, Fazal Nabi, Jhanvi Shah, et al.
Frontiers in Genetics|October 15, 2021
Case Report: Recurrent Variant c.298 TA in <i>CCN6</i> Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three CasesHarsh Sheth, Jhanvi Shah, Aadhira Nair, et al.
BMC Neurology|December 3, 2021
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndromeJhanvi Shah, Harsh Patel, Deepika Jain, et al.
European Journal of Medical Genetics|December 4, 2016
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureAnju Shukla, Priyanka Upadhyai, Jhanvi Shah, et al.
Journal of Assisted Reproduction and Genetics|November 14, 2024
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature reviewFrenny Sheth, Jhanvi Shah, Thomas Liehr, et al.
BMC Neurology|January 16, 2023
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case reportFrenny Sheth, Jhanvi Shah, Ketan Patel, et al.
Cureus|February 4, 2026
Evaluating Hearing Impairment in Different Histopathological Grades of Oral Submucous Fibrosis: An Audiometric AnalysisReeta Jha, Shweta G Thakkar, Soumendu Bikash Maiti, et al.
American Journal of Medical Genetics. Part A|September 1, 2020
Bosley-Salih-Alorainy syndrome in patients from IndiaSiddaramappa J Patil, Gadabanahalli Ashok Karthik, Gandham SriLakshmi Bhavani, et al.
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.
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.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
BMC Pediatrics|March 7, 2021
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case reportShruti Bajaj, Fazal Nabi, Jhanvi Shah, et al.
Frontiers in Genetics|October 15, 2021
Case Report: Recurrent Variant c.298 TA in <i>CCN6</i> Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three CasesHarsh Sheth, Jhanvi Shah, Aadhira Nair, et al.
BMC Neurology|December 3, 2021
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndromeJhanvi Shah, Harsh Patel, Deepika Jain, et al.
European Journal of Medical Genetics|December 4, 2016
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literatureAnju Shukla, Priyanka Upadhyai, Jhanvi Shah, et al.
Journal of Assisted Reproduction and Genetics|November 14, 2024
Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature reviewFrenny Sheth, Jhanvi Shah, Thomas Liehr, et al.
BMC Neurology|January 16, 2023
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case reportFrenny Sheth, Jhanvi Shah, Ketan Patel, et al.
Cureus|February 4, 2026
Evaluating Hearing Impairment in Different Histopathological Grades of Oral Submucous Fibrosis: An Audiometric AnalysisReeta Jha, Shweta G Thakkar, Soumendu Bikash Maiti, et al.
American Journal of Medical Genetics. Part A|September 1, 2020
Bosley-Salih-Alorainy syndrome in patients from IndiaSiddaramappa J Patil, Gadabanahalli Ashok Karthik, Gandham SriLakshmi Bhavani, et al.
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.
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.
Pageof 2