Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
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Title
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
Authors
Keywords
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Journal
Genes
Volume 13, Issue 6, Pages 999
Publisher
MDPI AG
Online
2022-06-02
DOI
10.3390/genes13060999
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- (2020) Robert A. Hegele et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
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- (2020) Jeremy Stewart et al. PEDIATRICS IN REVIEW
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- (2019) Magdalena Danyel et al. Scientific Reports
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- (2018) Katrine M. Müllertz et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
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- (2018) Asier Benito-Vicente et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
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- (2018) Urh Groselj et al. ATHEROSCLEROSIS
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- (2017) Anne P. Beigneux et al. NEW ENGLAND JOURNAL OF MEDICINE
- Genetic Architecture of Familial Hypercholesterolaemia
- (2017) Mahtab Sharifi et al. Current Cardiology Reports
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- Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment
- (2015) Albert Wiegman et al. EUROPEAN HEART JOURNAL
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- (2014) Thomas A. Lagace CURRENT OPINION IN LIPIDOLOGY
- Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia
- (2012) R. P. Surendran et al. JOURNAL OF INTERNAL MEDICINE
- Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
- (2011) Stephen R. Daniels et al. Journal of Clinical Lipidology
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- (2008) William T. Wright et al. ATHEROSCLEROSIS
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