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Marta Futema

Showing results (31-40 of 46) with videos related to

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Human Mutation|December 26, 2015
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisRosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, et al.
Plos One|September 18, 2024
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) ReleaseDeborah J Thompson, Daniel Wells, Saskia Selzam, et al.
Atherosclerosis|May 28, 2017
Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemiaMahtab Sharifi, Elizabeth Higginson, Sven Bos, et al.
International Journal of Cardiology|October 20, 2019
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotypeCharlotte L Hall, Mohammed M Akhtar, Maria Sabater-Molina, et al.
Lancet (London, England)|February 26, 2013
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control studyPhilippa J Talmud, Sonia Shah, Ros Whittall, et al.
Journal of Medical Genetics|July 3, 2014
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsMarta Futema, Vincent Plagnol, KaWah Li, et al.
Atherosclerosis|January 28, 2021
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countriesMarta Futema, Uma Ramaswami, Lukas Tichy, et al.
International Journal of Cardiology|December 18, 2019
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathyCharlotte L Hall, Priyatansh Gurha, Maria Sabater-Molina, et al.
Clinical Chemistry|November 22, 2014
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countriesMarta Futema, Sonia Shah, Jackie A Cooper, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Human Mutation|December 26, 2015
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisRosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, et al.
Plos One|September 18, 2024
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) ReleaseDeborah J Thompson, Daniel Wells, Saskia Selzam, et al.
Atherosclerosis|May 28, 2017
Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemiaMahtab Sharifi, Elizabeth Higginson, Sven Bos, et al.
International Journal of Cardiology|October 20, 2019
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotypeCharlotte L Hall, Mohammed M Akhtar, Maria Sabater-Molina, et al.
Lancet (London, England)|February 26, 2013
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control studyPhilippa J Talmud, Sonia Shah, Ros Whittall, et al.
Journal of Medical Genetics|July 3, 2014
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutationsMarta Futema, Vincent Plagnol, KaWah Li, et al.
Atherosclerosis|January 28, 2021
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countriesMarta Futema, Uma Ramaswami, Lukas Tichy, et al.
International Journal of Cardiology|December 18, 2019
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathyCharlotte L Hall, Priyatansh Gurha, Maria Sabater-Molina, et al.
Clinical Chemistry|November 22, 2014
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countriesMarta Futema, Sonia Shah, Jackie A Cooper, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Pageof 5