Gema A. Garcia
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 65 publications
COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.
Journal: Science advances
Published: July 29, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.
Journal: Research square
Published: July 17, 2026
Resveratrol modulates pancreatic proteotoxic stress and metabolic dysfunction in human IAPP transgenic mice.
Journal: Frontiers in endocrinology
Published: May 03, 2026
Evaluation of the Biological Standardization of Native Der p 1, Der p 2 and Der p 23 Proteins Isolated from Natural Allergen Source.
Journal: International journal of molecular sciences
Published: February 10, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Journal: Investigative ophthalmology & visual science
Published: February 05, 2026
Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.
Journal: NPJ genomic medicine
Published: September 17, 2025
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Journal: The Journal of molecular diagnostics : JMD
Published: September 02, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025
Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Journal: Molecular diagnosis & therapy
Published: July 06, 2025
RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Journal: American journal of human genetics
Published: June 10, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Journal: Eye (London, England)
Published: March 10, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Journal: International journal of molecular sciences
Published: February 12, 2025
Last Updated: 09/26/2026