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Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1 Pfau, Kristina; Ansari, Georg; Michels, Stephan; Dysli, Chantal; Liakopoulos, Sandra; Burghaus-Zhang, Jana; Al-Sheikh, Mayss; Garweg, Justus G.; Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Rivolta, Carlo; Terry, Sharon F.; Feltgen, Nicolas; Pfau, Maximilian 分享 收藏
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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals Szeri, Flora; Miko, Agnes; Navasiolava, Nastassia; Kaposi, Ambrus; Verschuere, Shana; Molnar, Beatrix; Li, Qiaoli; Terry, Sharon F.; Boraldi, Federica; Uitto, Jouni; van de Wetering, Koen; Martin, Ludovic; Quaglino, Daniela; Vanakker, Olivier M.; Tory, Kalman; Aranyi, Tamas 分享 收藏
Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial Sylvia, Louisa G.; Lunn, Mitchell R.; Obedin-Maliver, Juno; McBurney, Robert N.; Nowell, W. Benjamin; Nosheny, Rachel L.; Mularski, Richard A.; Long, Millie D.; Merkel, Peter A.; Pletcher, Mark J.; Tovey, Roberta E.; Scalchunes, Christopher; Sutphen, Rebecca; Martin, Ann S.; Horn, Elizabeth J.; O'Boyle, Megan; Pitch, Lisa; Seid, Michael; Redline, Susan; Greenebaum, Sophie; George, Nevita; French, Noah J.; Faria, Caylin M.; Puvanich, Nicha; Rabideau, Dustin J.; Selvaggi, Caitlin A.; Yu, Chu; Faraone, Stephen, V; Venkatachalam, Shilpa; McCall, Debbe; Terry, Sharon F.; Deckersbach, Thilo; Nierenberg, Andrew A. 分享 收藏
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification Ralph, Douglas; Nitschke, Yvonne; Levine, Michael A.; Caffet, Matthew; Wurst, Tamara; Saeidian, Amir Hossein; Youssefian, Leila; Vahidnezhad, Hassan; Terry, Sharon F.; Rutsch, Frank; Uitto, Jouni; Li, Qiaoli 分享 收藏
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort Saeidian, Amir Hossein; Youssefian, Leila; Huang, Jianhe; Touati, Andrew; Vahidnezhad, Hassan; Kowal, Luke; Caffet, Matthew; Wurst, Tamara; Singh, Jagmohan; Snook, Adam E.; Ryu, Ellen; Fortina, Paolo; Terry, Sharon F.; Schoenecker, Jonathan G.; Uitto, Jouni; Li, Qiaoli 分享 收藏
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum Kozak, Eszter; Fulop, Krisztina; Tokesi, Natalia; Rao, Nidhi; Li, Qiaoli; Terry, Sharon F.; Uitto, Jouni; Zhang, Xiaoming; Becker, Cyrus; Varadi, Andras; Pomozi, Viola 分享 收藏
Voices of biotech leaders (vol 39, pg 654, 2021) Bosley, Katrine; Casebourn, Charlotte; Chan, Priscilla; Chen, Janice; Chen, Michael; Church, George; Cumbers, John; de Wouters, Tomas; Dewey-Hagborg, Heather; Duportet, Xavier; Ene-Obong, Abasi; Elizondo, Arturo; Farrar, Jeremy; Gates, Bill; Gatto, Francesco; Giwa, Sebastian; Godec, Jernej; Gold, Silvia; LeProust, Emily; Lunshof, Jeantine; Martucci, Eddie; Heath, Michelle McMurray; Mellad, Jason; Oudova, Veronika; Oxman, Neri; Regev, Aviv; Richardson, Sarah; Scott, Christopher Thomas; Sherkow, Jake; Sibener, Leah; Tarrago, Teresa; Terry, Sharon; Venter, J. Craig; Wang, Spin; Wickramasekara, Sajith; Yadi, Hakim; Yang, Luhan; Zhao, Bowen 分享 收藏
Voices of biotech leaders Abong, Abasi Ene; Bosley, Katrine; Casebourn, Charlotte; Chan, Priscilla; Chen, Janice; Chen, Michael; Church, George; Cumbers, John; de Wouters, Tomas; Dewey-Hagborg, Heather; Duportet, Xavier; Elizondo, Arturo; Farrar, Jeremy; Gates, Bill; Gatto, Francesco; Giwa, Sebastian; Godec, Jernej; Gold, Silvia; LeProust, Emily; Lunshof, Jeantine; Martucci, Eddie; Heath, Michelle McMurray; Mellad, Jason; Oudova, Veronika; Oxman, Neri; Regev, Aviv; Richardson, Sarah; Scott, Christopher Thomas; Sherkow, Jake; Sibener, Leah; Tarrago, Teresa; Terry, Sharon; Venter, J. Craig; Wang, Spin; Wickramasekara, Sajith; Yadi, Hakim; Yang, Luhan; Zhao, Bowen 分享 收藏
Toward better governance of human genomic data O'Doherty, Kieran C.; Shabani, Mahsa; Dove, Edward S.; Bentzen, Heidi Beate; Borry, Pascal; Burgess, Michael M.; Chalmers, Don; De Vries, Jantina; Eckstein, Lisa; Fullerton, Stephanie M.; Juengst, Eric; Kato, Kazuto; Kaye, Jane; Knoppers, Bartha Maria; Koenig, Barbara A.; Manson, Spero M.; McGrail, Kimberlyn M.; McGuire, Amy L.; Meslin, Eric M.; Nicol, Dianne; Prainsack, Barbara; Terry, Sharon F.; Thorogood, Adrian; Burke, Wylie 分享 收藏
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GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype Li, D.; Ryu, E.; Saeidian, A. H.; Youssefian, L.; Oliphant, E.; Terry, S. F.; Tong, P. L.; Uitto, J.; Haass, N. K.; Li, Q. 分享 收藏
Reactions to the National Academies/Royal Society Report on Heritable Human Genome Editing Angrist, Misha; Barrangou, Rodolphe; Baylis, Francoise; Brokowski, Carolyn; Burgio, Gaetan; Caplan, Arthur; Chapman, Carolyn Riley; Church, George M.; Cook-Deegan, Robert; Cwik, Bryan; Doudna, Jennifer A.; Evans, John H.; Greely, Henry T.; Hercher, Laura; Hurlbut, J. Benjamin; Hynes, Richard O.; Ishii, Tetsuya; Kiani, Samira; Lee, LaTasha Hoskins; Levrier, Guillaume; Liu, David R.; Lunshof, Jeantine E.; Macintosh, Kerry Lynn; Mathews, Debra J. H.; Meslin, Eric M.; Mills, Peter H. R.; Montoliu, Lluis; Musunuru, Kiran; Nicol, Dianne; O'Neill, Helen; Qiu, Renzong; Ranisch, Robert; Sherkow, Jacob S.; Soni, Sheetal; Terry, Sharon; Topol, Eric; Williamson, Robert; Zhang, Feng; Davies, Kevin 分享 收藏
Time for NIH to lead on data sharing A draft policy is generally supportive but should start mandating data sharing Sim, Ida; Stebbins, Michael; Bierer, Barbara E.; Butte, Atul J.; Drazen, Jeffrey; Dzau, Victor; Hernandez, Adrian F.; Krumholz, Harlan M.; Lo, Bernard; Munos, Bernard; Perakslis, Eric; Rockhold, Frank; Ross, Joseph S.; Terry, Sharon F.; Yamamoto, Keith R.; Zarin, Deborah A.; Li, Rebecca 分享 收藏
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