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Steven R DePalma

Showing results (11-20 of 47) with videos related to

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Human Mutation|June 19, 2013
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing lossKerry K Brown, Lucas M Viana, Cecilia C Helwig, et al.
The Journal of Clinical Investigation|May 3, 2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disordersRobert C Gensure, Outi Mäkitie, Catherine Barclay, et al.
Circulation|November 2, 2022
Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i>, an Essential Pseudokinase in the Cardiomyocyte Nucleus and SarcomereRadhika Agarwal, Hiroko Wakimoto, Joao A Paulo, et al.
Circulation Research|August 18, 2021
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome AccumulationRadhika Agarwal, Joao A Paulo, Christopher N Toepfer, et al.
Circulation|August 1, 2014
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutationBerglind Adalsteinsdottir, Polakit Teekakirikul, Barry J Maron, et al.
Circulation. Genomic and Precision Medicine|September 5, 2020
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic CardiomyopathyAkl C Fahed, Georges Nemer, Fadi F Bitar, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 4, 2021
Discordant clinical features of identical hypertrophic cardiomyopathy twinsGiuliana G Repetti, Yuri Kim, Alexandre C Pereira, et al.
Anesthesiology|January 13, 2015
Using next-generation RNA sequencing to examine ischemic changes induced by cold blood cardioplegia on the human left ventricular myocardium transcriptomeJochen D Muehlschlegel, Danos C Christodoulou, David McKean, et al.
JCI Insight|July 1, 2020
BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathyAndrew Antolic, Hiroko Wakimoto, Zhe Jiao, et al.
Circulation. Genomic and Precision Medicine|September 28, 2023
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart TransplantationYuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
Human Mutation|June 19, 2013
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing lossKerry K Brown, Lucas M Viana, Cecilia C Helwig, et al.
The Journal of Clinical Investigation|May 3, 2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disordersRobert C Gensure, Outi Mäkitie, Catherine Barclay, et al.
Circulation|November 2, 2022
Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i>, an Essential Pseudokinase in the Cardiomyocyte Nucleus and SarcomereRadhika Agarwal, Hiroko Wakimoto, Joao A Paulo, et al.
Circulation Research|August 18, 2021
Filamin C Cardiomyopathy Variants Cause Protein and Lysosome AccumulationRadhika Agarwal, Joao A Paulo, Christopher N Toepfer, et al.
Circulation|August 1, 2014
Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutationBerglind Adalsteinsdottir, Polakit Teekakirikul, Barry J Maron, et al.
Circulation. Genomic and Precision Medicine|September 5, 2020
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic CardiomyopathyAkl C Fahed, Georges Nemer, Fadi F Bitar, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 4, 2021
Discordant clinical features of identical hypertrophic cardiomyopathy twinsGiuliana G Repetti, Yuri Kim, Alexandre C Pereira, et al.
Anesthesiology|January 13, 2015
Using next-generation RNA sequencing to examine ischemic changes induced by cold blood cardioplegia on the human left ventricular myocardium transcriptomeJochen D Muehlschlegel, Danos C Christodoulou, David McKean, et al.
JCI Insight|July 1, 2020
BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathyAndrew Antolic, Hiroko Wakimoto, Zhe Jiao, et al.
Circulation. Genomic and Precision Medicine|September 28, 2023
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart TransplantationYuri Kim, Oddný Brattberg Gunnarsdóttir, Anissa Viveiros, et al.
Pageof 5