Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Marta Futema

Showing results (11-20 of 46) with videos related to

Pageof 5
Sort By:
European Journal of Human Genetics : EJHG|November 14, 2025
Brugada Syndrome: an exemplar for the genomic basis of sudden deathRebecca L M Griffiths, Roddy Walsh, Marta Futema, et al.
Journal of Medical Genetics|October 12, 2012
Use of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaMarta Futema, Vincent Plagnol, Ros A Whittall, et al.
European Journal of Human Genetics : EJHG|May 27, 2018
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation databaseCharlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, et al.
JACC. Advances|June 28, 2024
A Machine Learning Model to Aid Detection of Familial HypercholesterolemiaJasmine Gratton, Marta Futema, Steve E Humphries, et al.
Journal of Medical Genetics|February 10, 2026
Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participantsMarta Futema, Martin Bird, Ash Haeger, et al.
European Journal of Human Genetics : EJHG|July 24, 2025
Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemiaMartin Bird, Chris Jyun-Peng Tung, Alan M Pittman, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|September 27, 2019
Prevalence of <i>TTR</i> variants detected by whole-exome sequencing in hypertrophic cardiomyopathyLuis R Lopes, Marta Futema, Mohammed M Akhtar, et al.
Annals of Human Genetics|November 8, 2012
Mutation detection in Croatian patients with familial hypercholesterolemiaIvan Pećin, Ros Whittall, Marta Futema, et al.
Journal of Medical Genetics|November 9, 2016
The UCL low-density lipoprotein receptor gene variant database: pathogenicity updateSarah Leigh, Marta Futema, Ros Whittall, et al.
Clinical Genetics|January 2, 2020
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causesCibelle Mariano, Ana Catarina Alves, Ana Margarida Medeiros, et al.
Pageof 5

Showing results (11-20 of 46) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|November 14, 2025
Brugada Syndrome: an exemplar for the genomic basis of sudden deathRebecca L M Griffiths, Roddy Walsh, Marta Futema, et al.
Journal of Medical Genetics|October 12, 2012
Use of targeted exome sequencing as a diagnostic tool for Familial HypercholesterolaemiaMarta Futema, Vincent Plagnol, Ros A Whittall, et al.
European Journal of Human Genetics : EJHG|May 27, 2018
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation databaseCharlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, et al.
JACC. Advances|June 28, 2024
A Machine Learning Model to Aid Detection of Familial HypercholesterolemiaJasmine Gratton, Marta Futema, Steve E Humphries, et al.
Journal of Medical Genetics|February 10, 2026
Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participantsMarta Futema, Martin Bird, Ash Haeger, et al.
European Journal of Human Genetics : EJHG|July 24, 2025
Novel start codon variant in the 5'UTR of LDLR associated with familial hypercholesterolaemiaMartin Bird, Chris Jyun-Peng Tung, Alan M Pittman, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|September 27, 2019
Prevalence of <i>TTR</i> variants detected by whole-exome sequencing in hypertrophic cardiomyopathyLuis R Lopes, Marta Futema, Mohammed M Akhtar, et al.
Annals of Human Genetics|November 8, 2012
Mutation detection in Croatian patients with familial hypercholesterolemiaIvan Pećin, Ros Whittall, Marta Futema, et al.
Journal of Medical Genetics|November 9, 2016
The UCL low-density lipoprotein receptor gene variant database: pathogenicity updateSarah Leigh, Marta Futema, Ros Whittall, et al.
Clinical Genetics|January 2, 2020
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causesCibelle Mariano, Ana Catarina Alves, Ana Margarida Medeiros, et al.
Pageof 5