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Feeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study 从澳大利亚和挪威骨骼发育不全患者视角看喂养、营养和身体活动：一项混合定性方法研究 Billich, Natassja; Ledang, Johanne Kjellevik; Bredahl, Anne-mette; Raj, Supriya; Velvin, Gry; Ireland, Penelope J.; Tuohy, Maeve; Fredwall, Svein Otto; Savarirayan, Ravi 分享 收藏
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Meeting report from the 3rd ISCBH-ERN BOND Achondroplasia Workshop on Long Bone Pathology in Children with Achondroplasia, Salzburg, Austria 22nd June 2024 Cheung, Moira S.; Alves, Ines; Carl-Innig, Patricia; Eastwood, Deborah; Maghnie, Mohamad; Offiah, Amaka; Paley, Dror; Riganti, Simone; Savarirayan, Ravi; Sessa, Marco; Vogt, Bjoern; Mohnike, Klaus 分享 收藏
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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort 缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析 Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony 分享 收藏
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial Savarirayan, 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
Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial 每周一次的travicon CNP (navepegritide) 治疗软骨发育不全儿童 (acimalt): 一项2期，多中心，随机，双盲，安慰剂对照，剂量递增试验 Savarirayan, Ravi; Hoernschemeyer, Daniel G.; Ljungberg, Merete; Zarate, Yuri A.; Bacino, Carlos A.; Bober, Michael B.; Legare, Janet M.; Hoegler, Wolfgang; Quattrin, Teresa; Abuzzahab, M. Jennifer; Hofman, Paul L.; White, Klane K.; Ma, Nina S.; Schnabel, Dirk; Sousa, Sergio B.; Mao, Meng; Smith, Alden; Chakraborty, Mukta; Giwa, Adebola; Winding, Bent; Volck, Birgitte; Shu, Aimee D.; McDonnellt, Ciara 分享 收藏
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Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia Fredwall, Svein O.; Linge, Jennifer; de Vries, Olga; Leinhard, Olof Dahlqvist; Eggesbo, Heidi Beate; Weedon-Fekjaer, Harald; Petersson, Mikael; Widholm, Per; Manum, Grethe; Savarirayan, Ravi 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
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people Luke, Joanne; Dalach, Philippa; Tuer, Lindsay; Savarirayan, Ravi; Ferdinand, Angeline; McGaughran, Julie; Kowal, Emma; Massey, Libby; Garvey, Gail; Dawkins, Hugh; Jenkins, Misty; Paradies, Yin; Pearson, Glenn; Stutterd, Chloe A.; Baynam, Gareth; Kelaher, Margaret 分享 收藏
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study Savarirayan, Ravi; Baratela, Wagner; Butt, Thomas; Cormier-Daire, Valerie; Irving, Melita; Miller, Bradley S.; Mohnike, Klaus; Ozono, Keiichi; Rosenfeld, Ron; Selicorni, Angelo; Thompson, Dominic; White, Klane K.; Wright, Michael; Fredwall, Svein O. 分享 收藏
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies Infigratinib治疗儿童软骨发育不全: PROPEL和PROPEL 2研究 Savarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John, III; Saal, Howard; Harmatz, Paul; Burren, Christine; Gotway, Garrett; Cho, Terry; Muslimova, Elena; Weng, Richard; Rogoff, Daniela; Hoover-Fong, Julie; Irving, Melita 分享 收藏
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Bjorn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hulya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Hausser, Ingrid; Budde, Birgit; Nurnberg, Gudrun; Nurnberg, Peter; Seemann, Petra; Kunkel, Desiree; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe 分享 收藏
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