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Publications by J.E. Santos
Mutational Screening in the LDLR Gene Among Patients Presenting Familial Hypercholesterolemia in the Southeast of Brazil
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
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Decreased Serum PON1 Arylesterase Activity in Familial Hypercholesterolemia Patients With a Mutated LDLR Gene
Genetics and Molecular Biology
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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia
Circulation. Genomic and precision medicine
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Cardiovascular Medicine
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Identification of a Novel Nonsense Variant C.1332dup, P.(D445*) in the LDLR Gene That Causes Familial Hypercholesterolemia
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Sleeping Beauty Transposon Vectors in Liver-Directed Gene Delivery of LDLR and VLDLR for Gene Therapy of Familial Hypercholesterolemia
Molecular Therapy
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Drug Discovery
Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia
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Systematic Family Screening for Familial Hypercholesterolemia in Iceland
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Cardiovascular Medicine
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Evaluation of Clinical and Laboratory Parameters Used in the Identification of Index Cases for Genetic Screening of Familial Hypercholesterolemia in Brazil
Atherosclerosis
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Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia
Current Atherosclerosis Reports
Cardiovascular Medicine
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Mortality Among Patients With Familial Hypercholesterolemia: A Registry-Based Study in Norway, 1992-2010
Journal of the American Heart Association
Cardiovascular Medicine
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