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Geroscience|October 2, 2022
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 yearsMarta Del Pozo-Valero, Marta Corton, Rosario López-Rodríguez, et al.
Journal of Clinical Medicine|March 14, 2026
Impact of PAX6-Related Congenital Aniridia on Corneal Diameter, Central Corneal Thickness and KeratometryKitti Kormányos, Béla Csákány, Mária Csidey, et al.
The British Journal of Ophthalmology|April 18, 2015
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopiaThomas Chassine, Béatrice Bocquet, Vincent Daien, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic RearrangementInmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Ophthalmology|October 23, 2013
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish populationMarta Corton, Almudena Avila-Fernandez, Elena Vallespín, et al.
Scientific Reports|June 21, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, et al.
Orvosi Hetilap|August 27, 2023
[Congenital aniridia patients' experience on their visual impairment in Hungary.]Mária Csidey, Christina Grupcheva, Tanja Stachon, et al.
Cornea|December 13, 2024
Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning MicroscopyMária Csidey, Anita Csorba, Kitti Kormányos, et al.
Scientific Reports|April 12, 2017
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial DevelopmentJesús-José Ferre-Fernández, José-Daniel Aroca-Aguilar, Cristina Medina-Trillo, et al.
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