Alba Segarra Casas
60 posts
Resolución de la beca nacional para asistir a la #ESHG2026: @AlbaSegarraC, investigadora postdoctoral del grupo de Enfermedades Genéticas @GeneticaSantPau 🏆 ¡Enhorabuena! 🔗Consulta más: aegh.org/resolucion-de-…
🧬We're excited to announce the publication of a new article describing a RYR1 founder variant in the Basque Country! This variant is associated with hyperCKemia, myalgia, and muscle cramps. Read more in @EurJournalNeuro! onlinelibrary.wiley.com/doi/10.1111/en…
Desde que empezó el macrocorte de vías por las obras entre Tarragona y Sant Vicenç de Calders todavía se ha acentuado más el calvario que sufren a diario los usuarios del corredor sur para ir a Barcelona. Los retrasos y las incidencias han sido constantes diaridetarragona.com/tarragona/caos…
✨Thrilled to share that our paper has just been published in the @ejhg_journal 🧬 This work has been a true team effort and we have achieved a diagnostic rate of 40%! We continue working to improve the genetic diagnosis of neuromuscular diseases 💪 🔗 pubmed.ncbi.nlm.nih.gov/39333429/
📸 More pictures coming in from Berlin! @AlbaSegarraC is currently presenting her poster on RNASeq as a diagnostic tool for neuromuscular disorders 🧬 We’re very proud to collaborate with @GeneticaSantPau in this project
