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Matteo Vatta

Showing results (41-50 of 124) with videos related to

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Journal of Child Neurology|May 19, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta, Michael B Tennison, Arthur S Aylsworth, et al.
Scientific Reports|March 14, 2018
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathyPatrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, et al.
Pacing and Clinical Electrophysiology : PACE|September 2, 2009
A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defectsKaveh Samani, Tomohiko Ai, Jeffrey A Towbin, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
Pacing and Clinical Electrophysiology : PACE|June 27, 2020
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na<sub>v</sub> 1.5 currents in HEK-293 cellsIsik Turker, Takeru Makiyama, Takeshi Ueyama, et al.
American Journal of Medical Genetics. Part A|April 28, 2009
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndromeHarinder R Singh, Zhao Yang, Saad Siddiqui, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 2, 2008
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complexKazuo Ueda, Carmen Valdivia, Argelia Medeiros-Domingo, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndromeMatteo Vatta, Zhiyv Niu, James R Lupski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Dena R Matalon, Cinthya J Zepeda-Mendoza, Mahmoud Aarabi, et al.
Clinical Journal of the American Society of Nephrology : CJASN|June 21, 2017
Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing HemodialysisSharon M Moe, Leah Wetherill, Brian Scott Decker, et al.
Pageof 13

Showing results (41-50 of 124) with videos related to

Sort By:
Pageof 13
Journal of Child Neurology|May 19, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta, Michael B Tennison, Arthur S Aylsworth, et al.
Scientific Reports|March 14, 2018
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathyPatrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, et al.
Pacing and Clinical Electrophysiology : PACE|September 2, 2009
A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defectsKaveh Samani, Tomohiko Ai, Jeffrey A Towbin, et al.
Circulation. Genomic and Precision Medicine|February 1, 2021
Common Variants in <i>KCNE1, KCNH2</i>, and <i>SCN5A</i> May Impact Cardiac Arrhythmia RiskMatteo Vatta, Rebecca Truty, John Garcia, et al.
Pacing and Clinical Electrophysiology : PACE|June 27, 2020
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na<sub>v</sub> 1.5 currents in HEK-293 cellsIsik Turker, Takeru Makiyama, Takeshi Ueyama, et al.
American Journal of Medical Genetics. Part A|April 28, 2009
A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndromeHarinder R Singh, Zhao Yang, Saad Siddiqui, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 2, 2008
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complexKazuo Ueda, Carmen Valdivia, Argelia Medeiros-Domingo, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndromeMatteo Vatta, Zhiyv Niu, James R Lupski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Dena R Matalon, Cinthya J Zepeda-Mendoza, Mahmoud Aarabi, et al.
Clinical Journal of the American Society of Nephrology : CJASN|June 21, 2017
Calcium-Sensing Receptor Genotype and Response to Cinacalcet in Patients Undergoing HemodialysisSharon M Moe, Leah Wetherill, Brian Scott Decker, et al.
Pageof 13