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Amy E Roberts

Showing results (81-90 of 96) with videos related to

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American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
JAMA Network Open|January 26, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart DiseaseSarah U Morton, Ami Norris-Brilliant, Sean Cunningham, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probandsWeilai Dong, Sheng Chih Jin, Michael C Sierant, et al.
Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
Pageof 10

Showing results (81-90 of 96) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|April 21, 2015
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion SyndromeElisabeth E Mlynarski, Molly B Sheridan, Michael Xie, et al.
JAMA Network Open|January 26, 2023
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart DiseaseSarah U Morton, Ami Norris-Brilliant, Sean Cunningham, et al.
Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probandsWeilai Dong, Sheng Chih Jin, Michael C Sierant, et al.
Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
American Heart Journal|June 2, 2020
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variantsJohanna C Herkert, Judith M A Verhagen, Raquel Yotti, et al.
American Journal of Medical Genetics. Part A|March 10, 2022
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discoveryMaria I Kontaridis, Amy E Roberts, Lisa Schill, et al.
Pageof 10