Centro de Genética Clínica

Recent papers from Centro de Genética Clínica

1. Scientific guidance on planning and implementation of a Trans-European Nature Network (TEN-N)ZooKeys · 2026
2. Behavioural and Physiological Responses of a Native Iberian Minnow Species to Heatwaves in the Presence of Invasive SpeciesFreshwater Biology · 2026
3. Impact of the Youth Health Offices of the Portuguese IPDJ Cuida-Te Program on the Quality of Life, Well-Being, and Mental Health of Adolescents and Emerging Adults: A Pre-Post Analysis over 3 YearsAdolescents · 2026
4. Sex-dependent phenotypes of anxiety and palatable food-seeking in offspring born from rats exposed to a high-fat dietFrontiers in Psychology · 2026
5. Clinical and molecular features of PRCD ‐associated retinopathyActa Ophthalmologica · 2026
6. Genome evolution and long-term demographic history in true crocodilesG3 Genes Genomes Genetics · 2026
7. Next-Generation Sequencing in Colorectal Cancer: Real-World Molecular Profiling and Clinical CorrelationsInternational Journal of Molecular Sciences · 2026
8. The Evolution and Current State-of-the-Art of Anterior Ankle ArthroscopyJournal of Orthopaedic Foot and Ankle Science · 2026
9. Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseasesFrontiers in Genetics · 2026
10. Biosensor-Based Detection and Quantification of Arsenic in Drinking WaterACS Synthetic Biology · 2026
11. Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare DiseasesGenes · 2026
12. Plasma Sphingomyelin as a Post-Treatment Monitoring Biomarker for Pathological Response in Locally Advanced Rectal CancerCancers · 2026
13. Drought tolerance classification using unmanned aerial systems based on RGB and multispectral dataFrontiers in Plant Science · 2026
14. Biomarkers in the pathogenesis and diagnosis of Crohn’s perianal fistulas: a systematic reviewTechniques in Coloproctology · 2026
15. Quantitative prospective experimental study on time-dependent ultrastructural changes in human spermatozoa after cryopreservationTissue and Cell · 2026
16. Trigenic, Digenic and Monogenic Alport Kidney Disease in a Single Family: Genotype-Phenotype Correlations in a Multigenerational FamilyKidney International Case Reports · 2026
17. Understanding patient priorities for survivorship care in older adults with cancer: A collaborative study by the Young Interest Group of the International Society of Geriatric Oncology.Journal of Clinical Oncology · 2026
18. Central congenital hypothyroidism caused by TSHB gene mutation: a case reportJournal of Pediatric Endocrinology and Metabolism · 2026
19. The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysisChromosome Research · 2026
20. Effectiveness of Levodopa/Carbidopa in Slowing the Progression of MJD/SCA3Neurology Open Access · 2026