Xiol Viñas, Clara (Date of defense: 2023-12-22)
[eng] Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by a regression in acquired skills, such as purposeful hand use and language, after an apparently normal early development. ...
Salvadores Ferreiro, Marina (Date of defense: 2024-01-18)
[eng] Mutations exhibit an uneven distribution across the human genome, with a regional mutation density (RMD) influenced by chromatin landscapes and replication timing. While there is a good understanding ...
Matías Sánchez, Daniel (Date of defense: 2023-10-27)
[eng] In recent years, the genetics field has placed a significant emphasis on identifying and characterizing genetic factors contributing to complex diseases, alongside environmental factors. Genome-wide ...