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Congenital deafness

Known as: CONGENITAL HEARING LOSS, hereditary deafness, Deafness, sensorineural, congenital 
 
National Institutes of Health

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Review
2004
Review
2004
The ten-member SLC26 gene family encodes anion exchangers capable of transporting a wide variety of monovalent and divalent… Expand
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Highly Cited
2002
Highly Cited
2002
The congenitally deaf cat suffers from a degeneration of the inner ear. The organ of Corti bears no hair cells, yet the auditory… Expand
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Highly Cited
2002
Highly Cited
2002
Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated… Expand
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Highly Cited
2000
Highly Cited
2000
Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive… Expand
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Highly Cited
1999
Highly Cited
1999
CONTEXT Mutations in the GJB2 gene are the most common known cause of inherited congenital severe-to-profound deafness. The… Expand
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is… Expand
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Highly Cited
1998
Highly Cited
1998
Objective. The advent of technologic improvements in assessing the hearing of newborn infants has made possible the… Expand
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Highly Cited
1997
Highly Cited
1997
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By… Expand
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Highly Cited
1991
Highly Cited
1991
BackgroundThe Long QT Syndrome (LQTS) is an infrequently occurring familial disorder in which affected individuals have… Expand
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Highly Cited
1966
Highly Cited
1966
Using two independent large databases of 5,991 organizations in 21 countries, this study explored (a) the influence of national… Expand
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