BIBLIOS
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Publications for mdfialho
(20)
2017
Biomarkers of Presbycusis and Tinnitus in a Portuguese Older Population
(2017)
Haúla F. Haider et al., with 10 authors including:
Antunes, M.
Graça Fialho
Journal articles
2016
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?
(2016)
Cristina Caroça et al., with 10 authors including:
Graça Fialho
Journal articles
2016
Epidemiology, genetics and social impact of arhl: a portuguese example
(2016)
Flook, M. et al., with 18 authors including:
Fialho, G.
Other
2016
ARHL and Tinnitus in Portuguese Population: what we can hear from a sample of elderly individuals
(2016)
Flook, m. et al., with 17 authors including:
Antunes, M.
Fialho, G.
Other
2015
The controversial pMet34Thr variant in GJB2 gene - two siblings, one genotype, two phenotypes
(2015)
Ana Rita Lameiras et al., with 9 authors including:
Graça Fialho
Journal articles
2015
Surdez associada à idade: resultados preliminares
(2015)
Chora, J
Matos, T D
Arguello, P
Fialho, G
Caria, H
Books
2014
WFS1 and Non-Syndromic Low-Frequency Sensorineural Hearing Loss: A Novel Mutation in a Portuguese Case
(2014)
Gonçalves AC et al., with 9 authors including:
Fialho G
Journal articles
2013
Contribution of GJB2 mutations to nonsyndromic sensorineural hearing loss in Portugal.
(2013)
Matos, TD et al., with 12 authors including:
Fialho, G.
Journal articles
2013
A novel p.Leu213X mutation in GJB2 gene in a Portuguese family
(2013)
Ana Cláudia Gonçalves et al., with 8 authors including:
Graça Fialho
Journal articles
2013
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients
(2013)
Matos TD et al., with 13 authors including:
Fialho G
Journal articles
2012
Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
(2012)
Joana Rita Chora et al., with 10 authors including:
Graça Fialho
Journal articles
2011
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family
(2011)
Simões-Teixeira H et al., with 11 authors including:
Fialho G
Journal articles
2011
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association
(2011)
Matos TD et al., with 10 authors including:
Fialho G.
Other
2010
DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome
(2010)
Chora J et al., with 10 authors including:
Antunes, M.
Fialho G
Journal articles
2010
The controversial R127H mutation in GJB2: report on three Portuguese hearing loss family cases
(2010)
Matos T D et al., with 6 authors including:
Graça Fialho
Other
2009
Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene
(2009)
Nele Hilgert et al., with 57 authors including:
Graça Fialho
Journal articles
2008
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
(2008)
Matos TD et al., with 8 authors including:
Fialho G.
Journal articles
2007
A novel hearing loss related mutation occurring in the GJB2 basal promoter
(2007)
Tiago D. Matos et al., with 7 authors including:
Graça Fialho
Journal articles
2005
A7445G mtDNA mutation present in a portuguese family exhibiting hereditary deafness and palmoplantar keratoderma
(2005)
H. Caria et al., with 10 authors including:
G. Fialho
Journal articles
2005
GJB2 mutations and degree of hearing loss: a multicenter study
(2005)
Snoeckx R.L. et al., with 64 authors including:
Fialho G.
Journal articles