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Author

M. Pérez-Coria

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Open access Oct 2026

Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population

The clinical and molecular spectrum of CHH in the Mexican population is expanded and additional evidence for RMRP variant interpretation is provided, providing additional evidence for RMRP variant interpretation.

Kiabeth Robles-Espinoza, Eduardo Esparza-García, J. Corona-Rivera et al. · 0 citations
Review Open access Aug 2026

Beyond Targeted Gene Panels: Whole-Exome Sequencing as a Strategic Platform for Precision Therapeutics in Alzheimer’s Disease

This review analyzes the use of WES as a strategic platform for personalized decision-making in contemporary practice given the multifactorial and heterogeneous complexity of AD, and proposes a hypothesis-generating theoretical framework whereby variants conventionally classified as benign or of uncertain significance...

Carlos Perezcano, M. Pérez-Coria, Ángel Ricardi-Mendoza · 0 citations

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