ORIGINAL RESEARCH
Published on 17 Jul 2025
Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop
doi 10.3389/fphar.2025.1595967
- 771 views
- Frontiers in Molecular Biosciences
- Molecular Diagnostics and Therapeutics
- Research Topics
- Molecular Underpinnings of Genetic and Rare Diseases: From Diagnostic Tools to Therapeutic Approaches
Molecular Underpinnings of Genetic and Rare Diseases: From Diagnostic Tools to Therapeutic Approaches
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Articles
ORIGINAL RESEARCH
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Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool
doi 10.3389/fgene.2025.1598602
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The oxidative-stress-senescence axis in keratoconus: new insights into corneal degeneration
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ORIGINAL RESEARCH
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Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome
doi 10.3389/fmolb.2025.1561380
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