about
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesImproving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosaUnravelling the genetic basis of simplex Retinitis Pigmentosa cases.Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl familyOral supplementation of propionyl-l-carnitine reduces body weight and hyperinsulinaemia in obese Zucker rats.Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F
P50
Q34608806-1850EEA2-CF42-47A4-BC9F-D0BA329994FCQ34740377-26354571-55BF-4295-BB3C-013ED5AC2AFBQ34784703-464D7CA3-2236-4CD3-81AF-19AE741AB9A8Q35975825-9E15A77D-BC53-47D7-BED4-3A11BDA7AEFCQ37288056-45C91E8B-74CC-4C4B-8762-8C239C889B2EQ37623694-1EA9D65B-1CE5-4D4A-BAC3-5165D23316BFQ38364696-110B6D60-B2C2-400E-87D2-625C5BF21CC6Q45958715-30AFA2F5-B8EE-4D33-A560-C7E117CFC5BBQ87020132-3E842386-15DE-4156-88DE-162871CD5157
P50
description
onderzoeker
@nl
researcher ORCID 0000-0003-4858-938X
@en
name
Maria Gonzalez del Pozo
@ast
Maria Gonzalez del Pozo
@en
Maria Gonzalez del Pozo
@es
Maria Gonzalez del Pozo
@nl
type
label
Maria Gonzalez del Pozo
@ast
Maria Gonzalez del Pozo
@en
Maria Gonzalez del Pozo
@es
Maria Gonzalez del Pozo
@nl
prefLabel
Maria Gonzalez del Pozo
@ast
Maria Gonzalez del Pozo
@en
Maria Gonzalez del Pozo
@es
Maria Gonzalez del Pozo
@nl
P1053
N-1742-2015
P106
P31
P496
0000-0003-4858-938X