未登录 Identification of novel genes including NAV2 associated with isolated tall stature Weiss, Birgit; Ott, Tim; Vick, Philipp; Lui, Julian C.; Roeth, Ralph; Vogel, Sebastian; Waldmueller, Stephan; Hoffmann, Sandra; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A. 分享 收藏
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A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder Lui, Julian C.; Raimann, Adalbert; Hojo, Hironori; Dong, Lijin; Roschger, Paul; Kikani, Bijal; Wintergerst, Uwe; Fratzl-Zelman, Nadja; Jee, Youn Hee; Haeusler, Gabriele; Baron, Jeffrey 分享 收藏
Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes Weiss, Birgit; Eberle, Birgit; Roeth, Ralph; de Bruin, Christiaan; Lui, Julian C.; Paramasivam, Nagarajan; Hinderhofer, Katrin; van Duyvenvoorde, Hermine A.; Baron, Jeffrey; Wit, Jan M.; Rappold, Gudrun A. 分享 收藏
DLG2 variants in patients with pubertal disorders Jee, Youn Hee; Won, Sehoon; Lui, Julian C.; Jennings, Melissa; Whalen, Philip; Yue Shanna; Temnycky, Adrian G.; Barnes, Kevin M.; Cheetham, Tim; Boden, Matthew G.; Radovick, Sally; Quinton, Richard; Leschek, Ellen W.; Aguilera, Greti; Yanovski, Jack A.; Seminara, Stephanie B.; Crowley, William F., Jr.; Delaney, Angela; Roche, Katherine W.; Baron, Jeffrey 分享 收藏
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Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot Sapp, Julie C.; Johnston, Jennifer J.; Driscoll, Kate; Heidlebaugh, Alexis R.; Sagardia, Ane Miren; Dogbe, D. Nadine; Umstead, Kendall L.; Turbitt, Erin; Alevizos, Ilias; Baron, Jeffrey; Bonnemann, Carsten; Brooks, Brian; Donkervoort, Sandra; Jee, Youn Hee; Linehan, W. Marston; McMahon, Francis J.; Moss, Joel; Mullikin, James C.; Nielsen, Deborah; Pelayo, Eileen; Remaley, Alan T.; Siegel, Richard; Su, Helen; Zarate, Carlos; Manolio, Teri A.; Biesecker, Barbara B.; Biesecker, Leslie G. 分享 收藏
mir-374-5p, mir-379-5p, and mir-503-5p Regulate Proliferation and Hypertrophic Differentiation of Growth Plate Chondrocytes in Male Rats Jee, Youn Hee; Wang, Jinhee; Yue, Shanna; Jennings, Melissa; Clokie, Samuel J.; Nilsson, Ola; Lui, Julian C.; Baron, Jeffrey 分享 收藏
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Unexpected Cartilage Phenotype in CD4-Cre-Conditional SOS-Deficient Mice Guittard, Geoffrey; Gallardo, Devorah L.; Li, Wenmei; Melis, Nicolas; Lui, Julian C.; Kortum, Robert L.; Shakarishvili, Nicholas G.; Huh, Sunmee; Baron, Jeffrey; Weigert, Roberto; Kramer, Joshua A.; Samelson, Lawrence E.; Sommers, Connie L. 分享 收藏
EZH1 and EZH2 promote skeletal growth by repressing inhibitors of chondrocyte proliferation and hypertrophy Lui, Julian C.; Garrison, Presley; Nguyen, Quang; Ad, Michal; Keembiyehetty, Chithra; Chen, Weiping; Jee, Youn Hee; Landman, Ellie; Nilsson, Ola; Barnes, Kevin M.; Baron, Jeffrey 分享 收藏
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations Gkourogianni, Alexandra; Andrew, Melissa; Tyzinski, Leah; Crocker, Melissa; Douglas, Jessica; Dunbar, Nancy; Fairchild, Jan; Funari, Mariana F. A.; Heath, Karen E.; Jorge, Alexander A. L.; Kurtzman, Tracey; LaFranchi, Stephen; Lalani, Seema; Lebl, Jan; Lin, Yuezhen; Los, Evan; Newbern, Dorothee; Nowak, Catherine; Olson, Micah; Popovic, Jadranka; Pruhova, Stepanka; Elblova, Lenka; Quintos, Jose Bernardo; Segerlund, Emma; Sentchordi, Lucia; Shinawi, Marwan; Stattin, Eva-Lena; Swartz, Jonathan; Gonzalez del Angel, Ariadna; Cuellar, Sinhue Diaz; Hosono, Hidekazu; Sanchez-Lara, Pedro A.; Hwa, Vivian; Baron, Jeffrey; Nilsson, Ola; Dauber, Andrew 分享 收藏
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Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH Win, A.; Reece, J.; Dowty, J.; Buchanan, D.; Clendenning, M.; Young, J.; Cleary, S.; Cotterchio, M.; Macrae, F.; Baron, J.; Le Marchand, L.; Casey, G.; Haile, R.; Newcomb, P.; Thibodeau, S.; Hopper, J.; Gallinger, S.; Winship, I.; Lindor, N.; Jenkins, M. 分享 收藏
Mice Deficient in AKAP13 (BRX) Are Osteoporotic and Have Impaired Osteogenesis 缺乏AKAP13 (BRX) 的小鼠是骨质疏松的并且具有受损的成骨作用 Koide, Hisashi; Holmbeck, Kenn; Lui, Julian C.; Guo, Xiaoxiao C.; Driggers, Paul; Chu, Tiffany; Tatsuno, Ichiro; Quaglieri, Caroline; Kino, Tomoshige; Baron, Jeffrey; Young, Marian F.; Robey, Pamela G.; Segars, James H. 分享 收藏
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