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LONG QT SYNDROME 3/6, DIGENIC Disorder

Known as: LONG QT SYNDROME 3/6, DIGENIC, LQT3/6, DIGENIC 
 
National Institutes of Health

Papers overview

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2017
2017
Digenic Connexin26 (Cx26, GJB2) and Cx30 (GJB6) heterozygous mutations are the second most frequent cause of recessive deafness… Expand
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2017
2017
&NA; Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations… Expand
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2017
2017
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved… Expand
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2014
2014
Introduction: Towards an Experimental Mode in Science, Society and Philosophy Part I: Questioning the Scientific Method 1 (De… Expand
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2014
2014
Background Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is… Expand
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Highly Cited
2013
Highly Cited
2013
Background—Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular… Expand
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2012
2012
BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary disorder mostly caused by desmosome gene… Expand
Highly Cited
2010
Highly Cited
2010
OBJECTIVES The aim of this study was to define the genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC… Expand
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2004
2004
Genetically caused congenital deafness is a common trait affecting 1 in 2000 newborn children and is predominantly inherited in… Expand
Highly Cited
1997
Highly Cited
1997
PURPOSE To measure the proportion of cases of retinitis pigmentosa (RP) caused by mutations in the peripherin/RDS (RDS) and ROM1… Expand
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