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International guideline on genetic testing of children with short stature 关于儿童矮身材遗传检测的国际指南 Dauber, Andrew; Jorge, Alexander A. L.; Nilsson, Ola; Dekkers, Olaf M.; Argente, Jesus; Netchine, Irene; Backeljauw, Philippe; Baron, Jeffrey; Bertola, Debora R.; Clayton, Peter; Davies, Justin H.; Edouard, Thomas; Eggermann, Thomas; Gevers, Evelien F.; Grigelioniene, Giedre; Heath, Karen E.; Jee, Youn Hee; Lapunzina, Pablo; Mortier, Geert R.; Pruhova, Stepanka; Storr, Helen L.; Wakeling, Emma; Ferreira, Carlos R.; Hasegawa, Tomonobu; Hokken-Koelega, Anita C. S.; Linglart, Agnes; Luo, Xiaoping; Wang, Xiumin; Hwa, Vivian; Gregory, Louise C.; Buonocore, Federica; Dattani, Mehul T.; Cianfarani, Stefano; Wit, Jan M. 分享 收藏
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework 基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类 Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R. 分享 收藏
Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum 睡眠呼吸障碍在软骨发育不全中的管理：欧洲软骨发育不全论坛的指导原则 Fauroux, Brigitte; Alsayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Boon, Mieke; Cormier-Daire, Valerie; Fredwall, Svein; Guillen-Navarro, Encarna; Irving, Melita; Kunkel, Philip; Madureira, Nuria; Maghnie, Mohamad; Milerad, Josef; Mohnike, Klaus; Mortier, Geert; Nobili, Lino; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B. 分享 收藏
Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone Huybrechts, Yentl; De Ridder, Raphael; Bergen, Dylan; De Samber, Bjoern; Boudin, Eveline; Tonelli, Francesca; Knapen, Dries; Vergauwen, Lucia; Schepers, Dorien; Van Dijck, Evelien; Tong, Qiao; Verhulst, Anja; De Beenhouwer, Jan; Sijbers, Jan; Hammond, Chrissy; Forlino, Antonella; Mortier, Geert; Coucke, Paul; Witten, P. Eckhard; Kwon, Ronald Young; Willaert, Andy; Hendrickx, Gretl; Van Hul, Wim 分享 收藏
Recommendations for management of infants and young children with achondroplasia: Does clinical practice align? Guillen-Navarro, Encarna; Alsayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Fredwall, Svein; Irving, Melita; Kunkel, Philip; Lampe, Christian; Lausch, Ekkehart; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B. 分享 收藏
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S. J.; Soni, J. P.; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V.; Kamath, Nutan; Shenoy, Rathika D.; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R.; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M. 分享 收藏
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia Fredwall, Svein; AlSayed, Moeenaldeen; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fauroux, Brigitte; Guillen-Navarro, Encarna; Innig, Florian; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Pejin, Zagorka; Sessa, Marco; Sousa, Sergio B.; Irving, Melita 分享 收藏
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An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling Hendrickx, Gretl; Boudin, Eveline; Mateiu, Ligia; Yorgan, Timur A.; Steenackers, Ellen; Kneissel, Michaela; Kramer, Ina; Mortier, Geert; Schinke, Thorsten; Van Hul, Wim 分享 收藏
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European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Fredwall, Svein; Guillen-Navarro, Encarna; Hoyer-Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B. 分享 收藏
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Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-α 在人iPSC衍生的神经元体外模型中，水痘病毒感染后干扰素刺激的基因的激活取决于外源干扰素-α Boeren, Marlies; Van Breedam, Elise; Buyle-Huybrecht, Tamariche; Lebrun, Marielle; Meysman, Pieter; Sadzot-Delvaux, Catherine; Van Tendeloo, Viggo F.; Mortier, Geert; Laukens, Kris; Ogunjimi, Benson; Ponsaerts, Peter; Delputte, Peter 分享 收藏
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R. 分享 收藏
Optimising care and follow-up of adults with achondroplasia Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben-Omran, Tawfeg; Boero, Silvio; Cormier-Daire, Valerie; Guillen-Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.; Wright, Michael 分享 收藏
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