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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.
Proceedings of the National Academy of Sciences of the United States of America
|
February 6, 2010
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Intza Garin, Emma L Edghill, Ildem Akerman, 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.
Human Mutation
|
March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrum
Maja Sukalo, Ariane Fiedler, Celina Guzmán, 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.
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of 3
Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
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.
Proceedings of the National Academy of Sciences of the United States of America
|
February 6, 2010
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Intza Garin, Emma L Edghill, Ildem Akerman, 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.
Human Mutation
|
March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrum
Maja Sukalo, Ariane Fiedler, Celina Guzmán, 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.
Page
of 3