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Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches

scientific article published on 24 August 2020

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

scientific article published on 24 August 2020

Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant

scientific article published in 2022

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability

artículo científico publicado en 2020

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

artículo científico publicado en 2019

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

scientific article published on 18 November 2018

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing

artículo científico publicado en 2019

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

artículo científico publicado en 2020

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

artículo científico publicado en 2019

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes

artículo científico publicado en 2018

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