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Familial hypercholesterolaemia case studies, universal screening and novel mutations

Title
Familial hypercholesterolaemia [electronic resource] : case studies, universal screening and novel mutations / Steve E. Humphries.
Published
London : Henry Stewart Talks, 2023.
Physical Description
1 online resource (1 streaming video file (28 min.) : color, sound).
Local Notes
Access is available to the Yale community.
Notes
Animated audio-visual presentation with synchronized narration.
Title from title frames.
Access and use
Access restricted by licensing agreement.
Variant and related titles
Familial hypercholesterolaemia. Part 3 of 3, Case studies, universal screening and novel mutations
Format
Images / Online / Video & Film
Language
English
Added to Catalog
September 20, 2023
Series
Henry Stewart talks. Biomedical & life sciences collection. Genetics of cardiovascular disease.
Genetics of cardiovascular disease : genetic interactions in a multifactorial disease,
Contents
Contents: Familial hypercholesterolaemia case studies
NHS 5-year plan for FH
Universal screening for FH
Management of children with FH
Whole Exome Sequencing
Statins and their use in children
The 100,000 Genome Project.
Publisher's number
6130 Henry Stewart Talks
Subjects (Medical)
Child.
Cholesterol, LDL - blood.
Early Diagnosis.
Exome Sequencing.
Hydroxymethylglutaryl-CoA Reductase Inhibitors.
Hyperlipoproteinemia Type II - genetics.
Mutation.
Practice Guidelines as Topic.
Whole Genome Sequencing.
Citation

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