about
The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier geneA novel p.Leu213X mutation in GJB2 gene in a Portuguese family.Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.Genotoxicity assessment of aromatic amines and amides in genetically engineered V79 cells.A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.Aneuploidy induced in lymphocytes of parents of trisomic 21 children.WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.[Prevalence of inappropriate urinary catheterization: a preventable risk factor]Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese familyThe role of poly(ADP-ribose)polymerase in the induction of sister chromatid exchanges and micronuclei by mitomycin C in Down's syndrome cells as compared to euploid cellsPreferential sensitivity of acrocentric chromosomes to the aneugenic effect of colchicine
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
H. Caria
@ast
H. Caria
@en
H. Caria
@es
H. Caria
@nl
type
label
H. Caria
@ast
H. Caria
@en
H. Caria
@es
H. Caria
@nl
altLabel
Helena Caria
@en
Maria Helena Caria
@en
prefLabel
H. Caria
@ast
H. Caria
@en
H. Caria
@es
H. Caria
@nl
P1053
M-8198-2015
P106
P1153
23007876200
P31
P3829
P496
0000-0002-2175-2303