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2025
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2024
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2019
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2026
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Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review.
Not available
S-EPMC6407181
|
biostudies-literature
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Expert consensus and recommendations on the live attenuated hepatitis A vaccine and immunization practices in India.
Not available
S-EPMC11740680
|
biostudies-literature
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Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Not available
S-EPMC11323464
|
biostudies-literature
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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Not available
S-EPMC6292089
|
biostudies-literature
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Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Not available
S-EPMC12918591
|
biostudies-literature
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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Not available
S-EPMC6376752
|
biostudies-literature
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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Not available
S-EPMC11088154
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biostudies-literature
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Evaluating prostate biopsy practices across Indian institutions: A multi-center prospective observational study
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S-EPMC12815441
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biostudies-literature
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