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Italian Journal of Pediatrics
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October 12, 2018
A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature
Frenny Sheth, Thomas Liehr, Viraj Shah, et al.
Clinical Diabetes and Endocrinology
|
July 14, 2017
The association of dyslipidemia and obesity with glycated hemoglobin
Jayesh Sheth, Ankna Shah, Frenny Sheth, et al.
BMC Pregnancy and Childbirth
|
April 18, 2015
Prenatal screening of cytogenetic anomalies - a Western Indian experience
Frenny Sheth, Mizanur Rahman, Thomas Liehr, et al.
Fetal and Pediatric Pathology
|
January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome
Tomy 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 India
Jayesh 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 15
Stuti 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 India
Jayesh 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 infertility
Giovanna 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 disease
Jayesh 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 review
Jayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
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of 7
Search research articles
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Showing results (31-40 of 67) with videos related to
Sort By:
Page
of 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 literature
Frenny Sheth, Thomas Liehr, Viraj Shah, et al.
Clinical Diabetes and Endocrinology
|
July 14, 2017
The association of dyslipidemia and obesity with glycated hemoglobin
Jayesh Sheth, Ankna Shah, Frenny Sheth, et al.
BMC Pregnancy and Childbirth
|
April 18, 2015
Prenatal screening of cytogenetic anomalies - a Western Indian experience
Frenny Sheth, Mizanur Rahman, Thomas Liehr, et al.
Fetal and Pediatric Pathology
|
January 11, 2013
Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome
Tomy 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 India
Jayesh 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 15
Stuti 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 India
Jayesh 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 infertility
Giovanna 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 disease
Jayesh 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 review
Jayesh Sheth, Siddharth Shah, Chaitanya Datar, et al.
Page
of 7