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Frenny Sheth

Showing results (61-70 of 67) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Journal of Neurology|May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patientsAparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 8, 2019
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephalyParanchai Boonsawat, Pascal Joset, Katharina Steindl, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Orphanet Journal of Rare Diseases|January 28, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicineJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Genomics|May 10, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Journal of Neurology|May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patientsAparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Pageof 7