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Showing results (641-650 of 721) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, 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 yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Ebiomedicine|July 5, 2025
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosisMatthew Lynch, Sophie Manoy, Peter D Sly, et al.
European Journal of Heart Failure|September 13, 2023
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery diseaseRichard E Jones, Daniel J Hammersley, Sean Zheng, et al.
Lancet (London, England)|November 16, 2018
Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trialBrian P Halliday, Rebecca Wassall, Amrit S Lota, et al.
Journal of Hospital Medicine|December 10, 2025
Preventing InfusAte injuries throughout a Child's Hospitalization (PATCH): Study protocol for a type 1 hybrid randomized controlled trialAmanda J Ullman, Toni Day, Rebecca Doyle, 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 cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
NPJ Genomic Medicine|October 28, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohortYasmine Aguib, Mona Allouba, Alaa Afify, et al.
Circulation|May 25, 2023
Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe RegistrySarah Abou Alaiwi, Thomas M Roston, Peter Marstrand, et al.
Pageof 73

Showing results (641-650 of 721) with videos related to

Sort By:
Pageof 73
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, 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 yieldKate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Ebiomedicine|July 5, 2025
Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosisMatthew Lynch, Sophie Manoy, Peter D Sly, et al.
European Journal of Heart Failure|September 13, 2023
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery diseaseRichard E Jones, Daniel J Hammersley, Sean Zheng, et al.
Lancet (London, England)|November 16, 2018
Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trialBrian P Halliday, Rebecca Wassall, Amrit S Lota, et al.
Journal of Hospital Medicine|December 10, 2025
Preventing InfusAte injuries throughout a Child's Hospitalization (PATCH): Study protocol for a type 1 hybrid randomized controlled trialAmanda J Ullman, Toni Day, Rebecca Doyle, 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 cardiomyopathyRoddy Walsh, Francesco Mazzarotto, Nicola Whiffin, et al.
NPJ Genomic Medicine|October 28, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohortYasmine Aguib, Mona Allouba, Alaa Afify, et al.
Circulation|May 25, 2023
Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe RegistrySarah Abou Alaiwi, Thomas M Roston, Peter Marstrand, et al.
Pageof 73