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Leave it alone: the natural history of growth-friendly graduates without a final fusion 任其发展:无需最终融合的生长友好型毕业生的自然病史 Abid, Rayyan; Ren, Bryan O.; Murphy, Robert F.; Sawyer, Jeffrey R.; Flynn, John M.; Emans, John B.; Smith, John T.; Sponseller, Paul D.; Ramirez, Norman; Hardesty, Christina K. 分享 收藏
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide Gonzaga-Jauregui, Claudia; Yesil, Gozde; Nistala, Harikiran; Gezdirici, Alper; Bayram, Yavuz; Nannuru, Kalyan C.; Pehlivan, Davut; Yuan, Bo; Jimenez, Johanna; Sahin, Yavuz; Paine, Ingrid S.; Akdemir, Zeynep Coban; Rajamani, Saathyaki; Staples, Jeffrey; Dronzek, John; Howell, Kristen; Fatih, Jawid M.; Smaldone, Silvia; Schlesinger, Alan E.; Ramirez, Norman; Cornier, Alberto S.; Kelly, Melissa A.; Haber, Robert; Chim, Shek Man; Nieman, Kristy; Wu, Nan; Walls, Johnathon; Poueymirou, William; Siao, Chia-Jen; Sutton, V. Reid; Williams, Marc S.; Posey, Jennifer E.; Gibbs, Richard A.; Carlo, Simon; Tegay, David H.; Economides, Aris N.; Lupski, James R. 分享 收藏
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients Rauch, Frank; Moffatt, Pierre; Cheung, Moira; Roughley, Peter; Lalic, Liljana; Lund, Allan M.; Ramirez, Norman; Fahiminiya, Somayyeh; Majewski, Jacek; Glorieux, Francis H. 分享 收藏
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome Cornier, Alberto S.; Staehling-Hampton, Karen; Delventhal, Kym M.; Saga, Yumiko; Caubet, Jean-Francois; Sasaki, Nobuo; Ellard, Sian; Young, Elizabeth; Ramirez, Norman; Carlo, Simon E.; Torres, Jose; Emans, John B.; Turnpenny, Peter D.; Pourquie, Olivier 分享 收藏
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