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Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results by Nora B. Henrikson, Aaron Scrol, Jamilyn M. Zepp, Melissa L. Anderson, Paula R. Blasi, John J. Ewing, Jane Grafton, James D. Ralston, Stephanie M. Fullerton, Kathleen A. Leppig
Published 2025-01-01Get full text
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Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing by David R. Murdock, Dong-chuan Guo, John S. DePaolo, Ulrike Schwarze, Xue-yan Duan, Alana C. Cecchi, Isabella C. Marin, YingYing Tang, Jessica X. Chong, Michael J. Bamshad, Kathleen A. Leppig, Peter H. Byers, Scott M. Damrauer, Dianna M. Milewicz
Published 2025-03-01Get full text
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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts by Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Published 2024-01-01Get full text
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