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Koumudi Godbole

Showing results (21-30 of 25) with videos related to

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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 medicineJayesh 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 biosynthesisIntza 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 IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja 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 centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
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Showing results (21-30 of 25) with videos related to

Sort By:
Pageof 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 medicineJayesh 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 biosynthesisIntza 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 IndiaHarsh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.
Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja 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 centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
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