Paula S. Jorge
Porto, 4050313, Portugal
Last Updated: 09/26/2026
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Found 47 publications
The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.
Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Published: January 07, 2026
Contribution of viable but non culturable cells and small colony variants in antibiotic insusceptibility and therapeutic failure against S. aureus and P. aeruginosa biofilm co-infections.
Journal: Microbial pathogenesis
Published: October 28, 2025
Red Blood Cell Antioxidant State in Fanconi Anemia: The Highlighted Roles of Pi-Class Glutathione S-Transferase and Glutathione Peroxidase.
Journal: Antioxidants (Basel, Switzerland)
Published: September 10, 2025
FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.
Journal: Journal of human genetics
Published: July 23, 2025
A novel CFTR-AQP7 protein complex regulates glycerol transport and motility of human sperm.
Journal: Human reproduction (Oxford, England)
Published: May 02, 2025
FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives.
Journal: International journal of molecular sciences
Published: April 06, 2025
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis.
Journal: European journal of human genetics : EJHG
Published: February 07, 2025
Cumulus cell DNA damage linked to fertilization success in females with an ovulatory dysfunction phenotype.
Journal: Frontiers in cell and developmental biology
Published: June 13, 2024
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.
Journal: Human genome variation
Published: June 11, 2024
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating.
Journal: Journal of medical genetics
Published: May 22, 2024
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea.
Journal: Reproductive biology and endocrinology : RB&E
Published: July 14, 2023
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Journal: European journal of medical genetics
Published: May 18, 2022
Last Updated: 09/26/2026