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Human Mutation
|
February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, 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 medicine
Jayesh 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 India
Harsh 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 centre
Jayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Eclinicalmedicine
|
May 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Mev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, et al.
Hereditary Cancer in Clinical Practice
|
October 1, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Pål Møller, Toni Seppälä, James G Dowty, et al.
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of 5
Search research articles
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Showing results (41-50 of 46) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 46 results.
Human Mutation
|
February 12, 2019
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
Richard Gallon, Barbara Mühlegger, Sören-Sebastian Wenzel, 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 medicine
Jayesh 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 India
Harsh 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 centre
Jayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Eclinicalmedicine
|
May 14, 2023
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Mev Dominguez-Valentin, Saskia Haupt, Toni T Seppälä, et al.
Hereditary Cancer in Clinical Practice
|
October 1, 2022
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
Pål Møller, Toni Seppälä, James G Dowty, et al.
Page
of 5