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Amanda J Hooper

Showing results (121-130 of 125) with videos related to

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The Journal of Biological Chemistry|June 26, 2007
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemiaJohn R Burnett, Shumei Zhong, Zhenghui G Jiang, et al.
BMJ Open|September 23, 2025
PUTRA-CV study protocol: a multicentre observational study of ethnic-specific genetic variants and dietary patterns in relation to lipoprotein(a) levels and their association with coronary artery disease severity in Malaysian adultsSangitha Pannirselvam, Subashini C Thambiah, Geeta Appannah, et al.
Human Mutation|October 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variantsMichael A Iacocca, Joana R Chora, Alain Carrié, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationJoana R Chora, Michael A Iacocca, Lukáš Tichý, et al.
American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.
Pageof 13

Showing results (121-130 of 125) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 125 results.
The Journal of Biological Chemistry|June 26, 2007
Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemiaJohn R Burnett, Shumei Zhong, Zhenghui G Jiang, et al.
BMJ Open|September 23, 2025
PUTRA-CV study protocol: a multicentre observational study of ethnic-specific genetic variants and dietary patterns in relation to lipoprotein(a) levels and their association with coronary artery disease severity in Malaysian adultsSangitha Pannirselvam, Subashini C Thambiah, Geeta Appannah, et al.
Human Mutation|October 13, 2018
ClinVar database of global familial hypercholesterolemia-associated DNA variantsMichael A Iacocca, Joana R Chora, Alain Carrié, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationJoana R Chora, Michael A Iacocca, Lukáš Tichý, et al.
American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.
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