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Amy Roberts

Showing results (21-30 of 47) with videos related to

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The Journal of Clinical Investigation|November 3, 2010
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutationPeng-Chieh Chen, Hiroko Wakimoto, David Conner, et al.
Human Mutation|January 4, 2020
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasingAllison H Seiden, Felix Richter, Nihir Patel, et al.
JACC. Advances|December 16, 2025
Clinical Characteristics Associated With Variability in Biopsy Grade Severity of Liver Fibrosis in Fontan CirculationTaylor Hartzel Houlihan, Ari Gartenberg, Kathryn M Dodds, et al.
Circulation|December 21, 2018
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart AssociationMary Ella Pierpont, Martina Brueckner, Wendy K Chung, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
Circulation Research|February 16, 2013
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results, Bruce Gelb, Martina Brueckner, et al.
Circulation. Genomic and Precision Medicine|August 31, 2021
Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant CardiomyopathyParth N Patel, Kaoru Ito, Jon A L Willcox, et al.
BMJ Global Health|December 5, 2019
Joint external evaluation of the International Health Regulation (2005) capacities: current status and lessons learnt in the WHO African regionAmbrose Talisuna, Ali Ahmed Yahaya, Soatiana Cathycia Rajatonirina, et al.
Circulation. Genomic and Precision Medicine|February 7, 2022
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or ObesitySarah U Morton, Alexandre C Pereira, Daniel Quiat, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathyWhitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
The Journal of Clinical Investigation|November 3, 2010
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutationPeng-Chieh Chen, Hiroko Wakimoto, David Conner, et al.
Human Mutation|January 4, 2020
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasingAllison H Seiden, Felix Richter, Nihir Patel, et al.
JACC. Advances|December 16, 2025
Clinical Characteristics Associated With Variability in Biopsy Grade Severity of Liver Fibrosis in Fontan CirculationTaylor Hartzel Houlihan, Ari Gartenberg, Kathryn M Dodds, et al.
Circulation|December 21, 2018
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart AssociationMary Ella Pierpont, Martina Brueckner, Wendy K Chung, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
Circulation Research|February 16, 2013
The Congenital Heart Disease Genetic Network Study: rationale, design, and early results, Bruce Gelb, Martina Brueckner, et al.
Circulation. Genomic and Precision Medicine|August 31, 2021
Contribution of Noncanonical Splice Variants to <i>TTN</i> Truncating Variant CardiomyopathyParth N Patel, Kaoru Ito, Jon A L Willcox, et al.
BMJ Global Health|December 5, 2019
Joint external evaluation of the International Health Regulation (2005) capacities: current status and lessons learnt in the WHO African regionAmbrose Talisuna, Ali Ahmed Yahaya, Soatiana Cathycia Rajatonirina, et al.
Circulation. Genomic and Precision Medicine|February 7, 2022
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or ObesitySarah U Morton, Alexandre C Pereira, Daniel Quiat, et al.
American Journal of Medical Genetics. Part A|May 7, 2015
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathyWhitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, et al.
Pageof 5