المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Sudden death in the young, Genome sequencing, Epilepsy, Arrhythmia, Cardiomyopathy, Gene burden, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142

المؤلفون: Dominic E. Fullenkamp, Alexander B. Willis, Jodi L. Curtin, Ansel P. Amaral, Kyle T. Dittloff, Sloane I. Harris, Ivana A. Chychula, Cory W. Holgren, Paul W. Burridge, Brenda Russell, Alexis R. Demonbreun, Elizabeth M. McNally

المصدر: Disease Models & Mechanisms, Vol 17, Iss 6 (2024)

مصطلحات موضوعية: membrane, annexin, sarcolemma, cardiomyocyte, human induced pluripotent stem cell-derived cardiomyocytes, duchenne muscular dystrophy, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/17/6/dmm050487; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/b52a5eadd7514af8ba2316e6c7190c6b

المؤلفون: Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 10 (2024)

مصطلحات موضوعية: arrhythmia, autophagy, BAG3, filamin C, proteostasis, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/f77896bb0287466494c3807c1849c7e0

المؤلفون: Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Inherited cardiac conditions, Inheritance, Allelic requirement, Disease mechanism, Gene curation, Genomic variant filtering, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160

المؤلفون: Konrad Teodor Sawicki, Drew R. Nannini, Suzette J. Bielinski, Nicholas B. Larson, Donald M. Lloyd-Jones, Bruce Psaty, Kent D. Taylor, Sanjiv J. Shah, Laura J. Rasmussen-Torvik, John T. Wilkins, Elizabeth M. McNally, Ravi B. Patel

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/aa784adc542245dba4ab31c8f58a617e

المؤلفون: Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe, Joshua D. Backman, Tiffany R. Bellomo, William P. Bone, Kiran J. Biddinger, Qin Hui, Ozan Dikilitas, Benjamin A. Satterfield, Yifan Yang, Michael P. Morley, Yuki Bradford, Megan Burke, Nosheen Reza, Brian Charest, Regeneron Genetics Center, Renae L. Judy, Megan J. Puckelwartz, Hakon Hakonarson, Atlas Khan, Leah C. Kottyan, Iftikhar Kullo, Yuan Luo, Elizabeth M. McNally, Laura J. Rasmussen-Torvik, Sharlene M. Day, Ron Do, Lawrence S. Phillips, Patrick T. Ellinor, Girish N. Nadkarni, Marylyn D. Ritchie, Zoltan Arany, Thomas P. Cappola, Kenneth B. Margulies, Krishna G. Aragam, Christopher M. Haggerty, Jacob Joseph, Yan V. Sun, Benjamin F. Voight, Scott M. Damrauer

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2a5c23e2c7b142b5961a518b4d904c75

المؤلفون: Amelia Sancilio, Joshua M. Schrock, Alexis R. Demonbreun, Richard T. D’Aquila, Brian Mustanski, Lauren A. Vaught, Nina L. Reiser, Matt P. Velez, Ryan R. Hsieh, Daniel T. Ryan, Rana Saber, Elizabeth M. McNally, Thomas W. McDade

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/10b43a9fc4974056b72ea7cf53bf71a4

المؤلفون: Elizabeth M. McNally

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/49a5220f213444e1a9be84242e56d03c

المؤلفون: Konrad T. Sawicki, Hongyan Ning, Norrina B. Allen, Mercedes R. Carnethon, Amisha Wallia, James D. Otvos, Issam Ben-Sahra, Elizabeth M. McNally, Janet K. Snell-Bergeon, John T. Wilkins

المصدر: JCI Insight, Vol 8, Iss 8 (2023)

مصطلحات موضوعية: Endocrinology, Metabolism, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/779ab5635c88401293a683894932f4f4

المؤلفون: Elizabeth M. McNally

المصدر: The Journal of Clinical Investigation, Vol 132, Iss 23 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/7817487259d24f5ca960d56688c908ac