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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
&NA; Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations… 
2017
2017
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved… 
2014
2014
Background Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is… 
2014
2014
Introduction: Towards an Experimental Mode in Science, Society and Philosophy Part I: Questioning the Scientific Method 1 (De… 
Highly Cited
2013
Highly Cited
2013
Background—Mutations in genes encoding for desmosomal proteins are the most common cause of arrhythmogenic right ventricular… 
2012
2012
BACKGROUND Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary disorder mostly caused by desmosome gene… 
Highly Cited
2010
Highly Cited
2010
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…