Author
Hospital Universitario La PazORCID 0000-0002-4680-881XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Marta Sevilla Porras, Esther Nieto-Molina, Zahara Medina…·Mireia del Toro
The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.
Sonia Rodríguez‐Nóvoa, Carmen Rodríguez‐Jiménez, Concepción Alonso…·Iluminada García Polo
The paper reports a mosaic LDLR single nucleotide variant in a familial hypercholesterolemia patient, detected using NGS and confirmed by pyrosequencing.
Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo…·Víctor Martínez‐Glez
The paper identifies somatic activating PIK3CA mutations in CLAPO syndrome patients and updates the syndrome's phenotype and natural history.