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Amélie Pinard

Showing results (1-10 of 19) with videos related to

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Neurology|March 6, 2024
Bridging the Genetic Divide: Ensuring Equitable Access to Neurologic Genetic TestingAmélie Pinard, Aleksandar Rajkovic
Circulation Research|February 15, 2019
Genetics of Thoracic and Abdominal Aortic DiseasesAmélie Pinard, Gregory T Jones, Dianna M Milewicz
European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|December 17, 2015
An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insightsAlexis Theron, Amélie Pinard, Alberto Riberi, et al.
Annals of Diagnostic Pathology|August 24, 2024
Next-generation sequencing has diagnostic utility in challenging small/flat urothelial lesionsAmélie Pinard, Constance Chen, Jessica Van Ziffle, et al.
Molecular Biology Reports|June 21, 2018
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defectAmélie Pinard, Nathalie Eudes, Julia Mitchell, et al.
Human Mutation|February 5, 2016
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA SubstitutionDavid Salgado, Jean-Pierre Desvignes, Ghadi Rai, et al.
Circulation. Genomic and Precision Medicine|November 9, 2022
Further Evidence That <i>ARIH1</i> Rare Variants Predispose to Thoracic Aortic DiseaseMaura L Boerio, Nicole M Engelhardt, Sanmati Cuddapah, et al.
European Journal of Human Genetics : EJHG|September 13, 2018
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, et al.
American Journal of Medical Genetics. Part A|December 2, 2023
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndromeAamuktha R Karla, Amélie Pinard, Maura L Boerio, et al.
Human Mutation|September 21, 2016
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big DatabasesAmélie Pinard, David Salgado, Jean-Pierre Desvignes, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Neurology|March 6, 2024
Bridging the Genetic Divide: Ensuring Equitable Access to Neurologic Genetic TestingAmélie Pinard, Aleksandar Rajkovic
Circulation Research|February 15, 2019
Genetics of Thoracic and Abdominal Aortic DiseasesAmélie Pinard, Gregory T Jones, Dianna M Milewicz
European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association for Cardio-Thoracic Surgery|December 17, 2015
An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insightsAlexis Theron, Amélie Pinard, Alberto Riberi, et al.
Annals of Diagnostic Pathology|August 24, 2024
Next-generation sequencing has diagnostic utility in challenging small/flat urothelial lesionsAmélie Pinard, Constance Chen, Jessica Van Ziffle, et al.
Molecular Biology Reports|June 21, 2018
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defectAmélie Pinard, Nathalie Eudes, Julia Mitchell, et al.
Human Mutation|February 5, 2016
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA SubstitutionDavid Salgado, Jean-Pierre Desvignes, Ghadi Rai, et al.
Circulation. Genomic and Precision Medicine|November 9, 2022
Further Evidence That <i>ARIH1</i> Rare Variants Predispose to Thoracic Aortic DiseaseMaura L Boerio, Nicole M Engelhardt, Sanmati Cuddapah, et al.
European Journal of Human Genetics : EJHG|September 13, 2018
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, et al.
American Journal of Medical Genetics. Part A|December 2, 2023
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndromeAamuktha R Karla, Amélie Pinard, Maura L Boerio, et al.
Human Mutation|September 21, 2016
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big DatabasesAmélie Pinard, David Salgado, Jean-Pierre Desvignes, et al.
Pageof 2