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Frenny Sheth

Showing results (31-40 of 67) with videos related to

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Italian Journal of Pediatrics|October 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literatureFrenny Sheth, Thomas Liehr, Viraj Shah, et al.
Clinical Diabetes and Endocrinology|July 14, 2017
The association of dyslipidemia and obesity with glycated hemoglobinJayesh Sheth, Ankna Shah, Frenny Sheth, et al.
BMC Pregnancy and Childbirth|April 18, 2015
Prenatal screening of cytogenetic anomalies - a Western Indian experienceFrenny Sheth, Mizanur Rahman, Thomas Liehr, et al.
Fetal and Pediatric Pathology|January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndromeTomy Kochuvareed Mampilly, George Tomy Mampilly, Neeradha Chandramohan, et al.
JIMD Reports|July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Molecular Cytogenetics|November 2, 2017
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15Stuti Tewari, Naznin Lubna, Raju Shah, et al.
BMC Medical Genetics|October 5, 2018
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in IndiaJayesh Sheth, Dhairya Pancholi, Mehul Mistri, et al.
Fertility and Sterility|May 26, 2009
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertilityGiovanna Vinci, Raja Brauner, Attila Tar, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Expanding the spectrum of <i>HEXA</i> mutations in Indian patients with Tay-Sachs diseaseJayesh Sheth, Mehul Mistri, Chaitanya Datar, 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.
Pageof 7

Showing results (31-40 of 67) with videos related to

Sort By:
Pageof 7
Italian Journal of Pediatrics|October 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literatureFrenny Sheth, Thomas Liehr, Viraj Shah, et al.
Clinical Diabetes and Endocrinology|July 14, 2017
The association of dyslipidemia and obesity with glycated hemoglobinJayesh Sheth, Ankna Shah, Frenny Sheth, et al.
BMC Pregnancy and Childbirth|April 18, 2015
Prenatal screening of cytogenetic anomalies - a Western Indian experienceFrenny Sheth, Mizanur Rahman, Thomas Liehr, et al.
Fetal and Pediatric Pathology|January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndromeTomy Kochuvareed Mampilly, George Tomy Mampilly, Neeradha Chandramohan, et al.
JIMD Reports|July 5, 2023
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the <i>PSAP</i> gene: Case report from IndiaJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Molecular Cytogenetics|November 2, 2017
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15Stuti Tewari, Naznin Lubna, Raju Shah, et al.
BMC Medical Genetics|October 5, 2018
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in IndiaJayesh Sheth, Dhairya Pancholi, Mehul Mistri, et al.
Fertility and Sterility|May 26, 2009
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertilityGiovanna Vinci, Raja Brauner, Attila Tar, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Expanding the spectrum of <i>HEXA</i> mutations in Indian patients with Tay-Sachs diseaseJayesh Sheth, Mehul Mistri, Chaitanya Datar, 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.
Pageof 7