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Jayesh Sheth

Showing results (21-30 of 80) with videos related to

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Journal of Human Genetics|November 20, 2015
Clinical, biochemical and mutation profile in Indian patients with Sandhoff diseaseParag M Tamhankar, Mehul Mistri, Pratima Kondurkar, 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.
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati 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.
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.
Prenatal Diagnosis|May 4, 2012
Prenatal diagnosis of HbE-Lepore and Hb Lepore-β-thalassemia: the importance of accurate genotyping of the couple at riskKhushnooma Italia, Jayesh Sheth, Pratibha Sawant, 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.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin 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.
Pageof 8

Showing results (21-30 of 80) with videos related to

Sort By:
Pageof 8
Journal of Human Genetics|November 20, 2015
Clinical, biochemical and mutation profile in Indian patients with Sandhoff diseaseParag M Tamhankar, Mehul Mistri, Pratima Kondurkar, 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.
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati 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.
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.
Prenatal Diagnosis|May 4, 2012
Prenatal diagnosis of HbE-Lepore and Hb Lepore-β-thalassemia: the importance of accurate genotyping of the couple at riskKhushnooma Italia, Jayesh Sheth, Pratibha Sawant, 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.
BMC Genomics|June 21, 2022
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndromeHarsh Sheth, Premal Naik, Maulin 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.
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