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Plos One
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June 23, 2012
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India
Mehul Mistri, Parag M Tamhankar, Frenny Sheth, et al.
Neurology India
|
January 4, 2022
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population
Harsh Sheth, Dhairya Pancholi, Riddhi Bhavsar, et al.
Molecular Cytogenetics
|
November 14, 2009
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, et al.
Journal of Human Genetics
|
August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India
Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
BMC Neurology
|
December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
JIMD Reports
|
July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility
Jayesh Sheth, Mehul Mistri, Frenny Sheth, 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 India
Jhanvi Shah, Debasrija Mondal, Deepika Jain, et al.
European Journal of Medical Genetics
|
February 15, 2011
Characterization of sSMC by FISH and molecular techniques
Frenny Sheth, Joris Andrieux, Elisabeth Ewers, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing
Frenny Sheth, Jhanvi Shah, Mamta Muranjan, et al.
Journal of Human Genetics
|
February 14, 2014
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, et al.
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Search research articles
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Showing results (41-50 of 67) with videos related to
Sort By:
Page
of 7
Plos One
|
June 23, 2012
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India
Mehul Mistri, Parag M Tamhankar, Frenny Sheth, et al.
Neurology India
|
January 4, 2022
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population
Harsh Sheth, Dhairya Pancholi, Riddhi Bhavsar, et al.
Molecular Cytogenetics
|
November 14, 2009
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, et al.
Journal of Human Genetics
|
August 8, 2019
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India
Mehul Mistri, Sanjeev Mehta, Dhaval Solanki, et al.
BMC Neurology
|
December 14, 2018
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients
Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, et al.
JIMD Reports
|
July 16, 2013
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility
Jayesh Sheth, Mehul Mistri, Frenny Sheth, 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 India
Jhanvi Shah, Debasrija Mondal, Deepika Jain, et al.
European Journal of Medical Genetics
|
February 15, 2011
Characterization of sSMC by FISH and molecular techniques
Frenny Sheth, Joris Andrieux, Elisabeth Ewers, et al.
American Journal of Medical Genetics. Part A
|
February 27, 2026
Genotype-Phenotype Correlation Through Breakpoint Characterization of a Genomically Balanced Complex Chromosomal Rearrangement Using Long Read Sequencing
Frenny Sheth, Jhanvi Shah, Mamta Muranjan, et al.
Journal of Human Genetics
|
February 14, 2014
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease
Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, et al.
Page
of 7