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收藏分享 收藏 Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registryeliglustat治疗的长期有效性: 来自国际合作Gaucher Group Gaucher注册表的真实世界分析
Mistry, Pramod K.; Balwani, Manisha; Charrow, Joel; Lorber, Jeremy; Niederau, Claus; Carwile, Jenny L.; Oliveira-dos-Santos, Antonio; Perichon, Maria Gabriela; Uslu Cil, Sefika; Kishnani, Priya S. 分享 收藏 Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trialSavarirayan, Ravi; Wilcox, William R.; Harmatz, Paul; Phillips, John; Polgreen, Lynda E.; Tofts, Louise; Ozono, Keiichi; Arundel, Paul; Irving, Melita; Bacino, Carlos A.; Basel, Donald; Bober, Michael B.; Charrow, Joel; Mochizuki, Hiroshi; Kotani, Yumiko; Saal, Howard M.; Army, Clare; Jeha, George; Qi, Yulan; Han, Lynn; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan 分享 收藏 分享 收藏 Neurocognitive Manifestations of Individuals with NF1 MicrodeletionsGarzon, Jenny; Patete, Andrea; Serbinski, Carolyn; Hankins, Madison; Sawin, Michael; Weisman, Allison; Kim, Katherine; Charrow, Joel; Listernick, Robert; Prada, Carlos 分享 收藏 分享 收藏 分享 收藏 Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study软骨发育不全儿童的生长参数: 一项为期7年的前瞻性多国观察性研究Savarirayan, Ravi; Irving, Melita; Harmatz, Paul; Delgado, Borja; Wilcox, William R.; Philips, John; Owen, Natalie; Bacino, Carlos A.; Tofts, Louise; Charrow, Joel; Polgreen, Lynda E.; Hoover-Fong, Julie; Arundel, Paul; Ginebreda, Ignacio; Saal, Howard M.; Basel, Donald; Font, Rosendo Ullot; Ozono, Keiichi; Bober, Michael B.; Cormier-Daire, Valerie; Kim-Hanh Le Quan Sang; Baujat, Genevieve; Alanay, Yasemin; Rutsch, Frank; Hoernschemeyer, Daniel; Mohnike, Klaus; Mochizuki, Hiroshi; Tajima, Asako; Kotani, Yumiko; Weaver, David D.; White, Klane K.; Army, Clare; Larrimore, Kevin; Gregg, Keith; Jeha, George; Milligan, Claire; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan 分享 收藏 Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic LaboratoryDrackley, Andy; Brew, Casey; Wlodaver, Alissa; Spencer, Sara; Leuer, Katrin; Rathbun, Pamela; Charrow, Joel; Wieneke, Xuwen; Yap, Kai Lee; Ing, Alexander 分享 收藏 分享 收藏 分享 收藏 Vosoritide for children with achondroplasia: Growth velocity and pubertal milestonesIrving, Melita; Hoover-Fong, Julie; Bacino, Carlos; Charrow, Joel; Cormier-Daire, Valerie; Polgreen, Lynda; Harmatz, Paul; Dickson, Patricia; Bober, Michael; Mohnike, Klaus; Wilcox, William; Labed, Alice Huntsman; Lawrinson, Sue; Fisheleva, Elena; Jeha, George; Day, Jonathan; Phillips, John; Savarirayan, Ravi 分享 收藏 分享 收藏 Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studySavarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B.; Polgreen, Lynda E.; Ginebreda, Ignacio; Mohnike, Klaus; Charrow, Joel; Hoernschemeyer, Daniel; Ozono, Keiichi; Alanay, Yasemin; Arundel, Paul; Kotani, Yumiko; Yasui, Natsuo; White, Klane K.; Saal, Howard M.; Leiva-Gea, Antonio; Luna-Gonzalez, Felipe; Mochizuki, Hiroshi; Basel, Donald; Porco, Dania M.; Jayaram, Kala; Fisheleva, Elena; Huntsman-Labed, Alice; Day, Jonathan R. S. 分享 收藏 Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyVoisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7与TRAF7种系变异相关的表型谱和转录组谱Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. 分享 收藏 
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