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: David Y. Barefield, Jordan J. Sell, Ibrahim Tahtah, Samuel D. Kearns, Elizabeth M. McNally, Alexis R. Demonbreun

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/0ace02e8503f4803979e5eef97f341b7

المؤلفون: Megan J. Puckelwartz, Lorenzo L. Pesce, Lisa M. Dellefave‐Castillo, Matthew T. Wheeler, Tess D. Pottinger, Avery C. Robinson, Samuel D. Kearns, Anthony M. Gacita, Zachary J. Schoppen, Wenyu Pan, Gene Kim, Jane E. Wilcox, Allen S. Anderson, Euan A. Ashley, Sharlene M. Day, Thomas Cappola, Gerald W. Dorn, Elizabeth M. McNally

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 10, Iss 7 (2021)

مصطلحات موضوعية: dilated cardiomyopathy, hypertrophic cardiomyopathy, modifier genes, variable expressivity, variant burden, 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/a95fe1f1b19b45d7abff3757ca3d6ed4

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

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

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_impact_of_damaging_epilepsy_and_cardiac_genetic_variant_burden_in_sudden_death_in_the_young/25010477

الاتاحة: https://doi.org/10.6084/m9.figshare.25010477.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_The_impact_of_damaging_epilepsy_and_cardiac_genetic_variant_burden_in_sudden_death_in_the_young/25010477

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 K Etheridge, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Heather MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally

المصدر: medRxiv

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f4ded27efef0884af4112da59a6363
https://doi.org/10.1101/2023.03.27.23287711

المؤلفون: Julie A Fischer, Tanner O Monroe, Lorenzo L Pesce, Konrad T Sawicki, Mattia Quattrocelli, Rosemary Bauer, Samuel D Kearns, Matthew J Wolf, Megan J Puckelwartz, Elizabeth M McNally

المصدر: Human molecular genetics.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb08ce51acbd12ff4f7829dd42c9a599
https://pubmed.ncbi.nlm.nih.gov/35904451