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List of works by H. Caria

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.

scientific article

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

scientific article

Aneuploidy induced in lymphocytes of parents of trisomic 21 children.

scientific article published in January 2001

Genotoxicity assessment of aromatic amines and amides in genetically engineered V79 cells.

scientific article published on December 1994

Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

article

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Preferential sensitivity of acrocentric chromosomes to the aneugenic effect of colchicine

scientific article published on 01 January 1996

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

scientific article

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases

scientific article

The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.

scientific article

The 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 cells

scientific article published on 01 July 1997

WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

scientific article published on 23 January 2014

[Prevalence of inappropriate urinary catheterization: a preventable risk factor]

scientific article published on 31 December 2011

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