SISTEMA INTEGRAL DE INFORMACIÓN ACADÉMICA - PÚBLICO

Arce-Gonzalez R.
(Autor externo)

Obras con ISBN:0
Documentos en revistas:12
Colaboraciones en Tesis:0
Patentes:0
Obras con ISBN:No hay obras de este autor.
Documentos en revistas:
1.- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005?2025) (2026)
 
2.- A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant (2025)
 
3.- A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family (2024)
 
4.- Mutational Profile and Retinal Phenotypes of PCARE -Related Cone-Rod Dystrophies in a Mexican Cohort (2024)
 
5.- Genetic Aspects of Glaucoma: An Updated Review (2024)
 
6.- Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes (2023)
 
7.- A novel homozygous ZNF469 variant causing brittle cornea syndrome is associated with corneal ectasias in heterozygous carriers (2023)
 
8.- Learning from history in the midst of the COVID-19: epidemics/pandemics of antiquity up to the fall of the Western Roman Empire (2023)
 
9.- Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1 (2022)
 
10.- Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing (2020)
 
11.- Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability (2020)
 
12.- Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome (2014)
 
Colaboraciones en Tesis:No hay tesis de este autor.
Patentes:No hay patentes de este autor.