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Human Mutation
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June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Megan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Diabetic Medicine : a Journal of the British Diabetic Association
|
July 8, 2021
Evaluation of protocol amendments to the Environmental Determinants of Islet Autoimmunity (ENDIA) study during the COVID-19 pandemic
Megan A S Penno, Amanda J Anderson, Rebecca L Thomson, et al.
Circulation. Genomic and Precision Medicine
|
July 2, 2024
Multisite Validation of a Functional Assay to Adjudicate <i>SCN5A</i> Brugada Syndrome-Associated Variants
Joanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Multi-site validation of a functional assay to adjudicate <i>SCN5A</i> Brugada Syndrome-associated variants
Joanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Pediatric Diabetes
|
May 21, 2020
Changes in pancreatic exocrine function in young at-risk children followed to islet autoimmunity and type 1 diabetes in the ENDIA study
Megan A S Penno, Helena Oakey, Priya Augustine, et al.
Journal of Diabetes Investigation
|
June 14, 2023
A surge in serum mucosal cytokines associated with seroconversion in children at risk for type 1 diabetes
Leonard C Harrison, Esther Bandala-Sanchez, Helena Oakey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Kate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Diabetologia
|
December 11, 2025
Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort
Jennifer J Couper, Helena Oakey, Megan A S Penno, et al.
Genome Medicine
|
January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
Ana Morales, Alexander Ing, Christian Antolik, et al.
Page
of 49
Search research articles
Search
Showing results (461-470 of 486) with videos related to
Sort By:
Page
of 49
Human Mutation
|
June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
Megan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Diabetic Medicine : a Journal of the British Diabetic Association
|
July 8, 2021
Evaluation of protocol amendments to the Environmental Determinants of Islet Autoimmunity (ENDIA) study during the COVID-19 pandemic
Megan A S Penno, Amanda J Anderson, Rebecca L Thomson, et al.
Circulation. Genomic and Precision Medicine
|
July 2, 2024
Multisite Validation of a Functional Assay to Adjudicate <i>SCN5A</i> Brugada Syndrome-Associated Variants
Joanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 10, 2024
Multi-site validation of a functional assay to adjudicate <i>SCN5A</i> Brugada Syndrome-associated variants
Joanne G Ma, Matthew J O'Neill, Ebony Richardson, et al.
Pediatric Diabetes
|
May 21, 2020
Changes in pancreatic exocrine function in young at-risk children followed to islet autoimmunity and type 1 diabetes in the ENDIA study
Megan A S Penno, Helena Oakey, Priya Augustine, et al.
Journal of Diabetes Investigation
|
June 14, 2023
A surge in serum mucosal cytokines associated with seroconversion in children at risk for type 1 diabetes
Leonard C Harrison, Esther Bandala-Sanchez, Helena Oakey, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 12, 2018
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Kate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Diabetologia
|
December 11, 2025
Evolution of islet autoantibodies in the Environmental Determinants of Islet Autoimmunity (ENDIA) prospective cohort
Jennifer J Couper, Helena Oakey, Megan A S Penno, et al.
Genome Medicine
|
January 31, 2019
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
Ana Morales, Alexander Ing, Christian Antolik, et al.
Page
of 49