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Frenny Sheth

Showing results (11-20 of 67) with videos related to

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Indian Pediatrics|December 21, 2012
Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron functionJayesh Sheth, Harsh Patel, Sanjiv Mehta, et al.
BMC Medical Genetics|May 13, 2018
A case of Raine syndrome presenting with facial dysmorphy and review of literatureJayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, et al.
Indian Pediatrics|November 14, 2007
Cytogenetic analysis of Down syndrome in GujaratFrenny Sheth, Subhada Rao, Manisha Desai, 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.
Italian Journal of Pediatrics|February 1, 2015
Pure interstitial dup(6)(q22.31q22.31) - a case reportFrenny Sheth, Sunil Trivedi, Joris Andrieux, et al.
BMC Pediatrics|February 4, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case reportShruti Bajaj, Purnima Satoskar, Aadhira Nair, et al.
BMC Pediatrics|March 10, 2019
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a reviewJayesh Sheth, Akash Patel, Raju Shah, et al.
BMC Pediatrics|July 13, 2016
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a reviewJayesh Sheth, Chaitanya Datar, Mehul Mistri, et al.
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.
BMC Medical Genetics|January 19, 2017
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literatureJayesh Sheth, Jijo John Joseph, Krati Shah, et al.
Pageof 7

Showing results (11-20 of 67) with videos related to

Sort By:
Pageof 7
Indian Pediatrics|December 21, 2012
Clinical and molecular characterization of patients with gross hypotonia and impaired lower motor neuron functionJayesh Sheth, Harsh Patel, Sanjiv Mehta, et al.
BMC Medical Genetics|May 13, 2018
A case of Raine syndrome presenting with facial dysmorphy and review of literatureJayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, et al.
Indian Pediatrics|November 14, 2007
Cytogenetic analysis of Down syndrome in GujaratFrenny Sheth, Subhada Rao, Manisha Desai, 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.
Italian Journal of Pediatrics|February 1, 2015
Pure interstitial dup(6)(q22.31q22.31) - a case reportFrenny Sheth, Sunil Trivedi, Joris Andrieux, et al.
BMC Pediatrics|February 4, 2022
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case reportShruti Bajaj, Purnima Satoskar, Aadhira Nair, et al.
BMC Pediatrics|March 10, 2019
Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a reviewJayesh Sheth, Akash Patel, Raju Shah, et al.
BMC Pediatrics|July 13, 2016
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a reviewJayesh Sheth, Chaitanya Datar, Mehul Mistri, et al.
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.
BMC Medical Genetics|January 19, 2017
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literatureJayesh Sheth, Jijo John Joseph, Krati Shah, et al.
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