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Annals of Neurology, ISSN 0364-5134, 06/2014, Volume 75, Issue 6, pp. 943 - 958
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 1, pp. 91 - 104
Segmental copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs... 
LINKAGE DISEQUILIBRIUM | POLYMORPHISMS | SEQUENCE | GENETICS & HEREDITY | RECENT SEGMENTAL DUPLICATIONS | HYBRIDIZATION | ANIMAL DEVELOPMENT | CLUSTER | Phenotype | Research | RNA | Human genetics | Biological diversity
Journal Article
CURRENT OPINION IN LIPIDOLOGY, ISSN 0957-9672, 04/2019, Volume 30, Issue 2, pp. 63 - 70
Journal Article
Heart Rhythm, ISSN 1547-5271, 08/2018, Volume 15, Issue 8, pp. 1179 - 1188
Loss-of-function mutations in are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with... 
Deletion | Copy number variation | Multiplex ligation-dependent probe amplification | SCN5A | Brugada syndrome | Duplication | DIAGNOSIS | CARDIAC & CARDIOVASCULAR SYSTEMS | FOLLOW-UP | SCN10A | GENES | COMMON | COHORT | MUTATIONS | SPECTRUM | INSIGHTS | Arrhythmia | Analysis
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2012, Volume 21, Issue 15, pp. 3513 - 3523
Journal Article