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Ellen R A Thomas

Showing results (1-10 of 7) with videos related to

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Clinical Dysmorphology|March 15, 2006
Mild case of Curry-Jones syndromeEllen R A Thomas, Emma L Wakeling, Frances R Goodman, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemiaEllen R A Thomas, Santosh S Atanur, Penny J Norsworthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaJana Vandrovcova, Ellen R A Thomas, Santosh S Atanur, et al.
Genome Medicine|October 30, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discoveryKatherine S Josephs, Eleanor G Seaby, Philippa May, et al.
BMC Medical Genetics|June 25, 2014
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyPenny J Norsworthy, Jana Vandrovcova, Ellen R A Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Clinical Dysmorphology|March 15, 2006
Mild case of Curry-Jones syndromeEllen R A Thomas, Emma L Wakeling, Frances R Goodman, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemiaEllen R A Thomas, Santosh S Atanur, Penny J Norsworthy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaJana Vandrovcova, Ellen R A Thomas, Santosh S Atanur, et al.
Genome Medicine|October 30, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discoveryKatherine S Josephs, Eleanor G Seaby, Philippa May, et al.
BMC Medical Genetics|June 25, 2014
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyPenny J Norsworthy, Jana Vandrovcova, Ellen R A Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.
American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Pageof 1