Genetics of congenital hearing impairment: a clinical approach.
about
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunctionHomozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentGenotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.Connexin-26 mutations in deafness and skin disease.DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnosticsGJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.Causes of hearing impairment in the Norwegian paediatric cochlear implant program.A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants.
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Genetics of congenital hearing impairment: a clinical approach.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on September 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetics of congenital hearing impairment: a clinical approach.
@en
Genetics of congenital hearing impairment: a clinical approach.
@nl
type
label
Genetics of congenital hearing impairment: a clinical approach.
@en
Genetics of congenital hearing impairment: a clinical approach.
@nl
prefLabel
Genetics of congenital hearing impairment: a clinical approach.
@en
Genetics of congenital hearing impairment: a clinical approach.
@nl
P2860
P1476
Genetics of congenital hearing impairment: a clinical approach.
@en
P2093
Lisbeth Tranebaerg
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P304
P356
10.1080/14992020802249259
P577
2008-09-01T00:00:00Z