A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

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Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study by Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Niessen, Christina Pflug

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Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption by Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang

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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families by Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang

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The distribution and spectrum of thalassemia variants in GUIYANG region, southern China by Xuanyin Zhao, Zhiyu You, Yunyan Deng, Yi Zhou, Dongyang Deng, Jian Quan, Fang Chen, Zhimei Yan, Ya Qi, Leilei Chen, Fang Xiang, Weixian Zheng, Ruyi Zhang

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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

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Generalized pustular psoriasis: a multicentric study on patient characteristics and clinical burden by Cristina Bulai Livideanu, Jérémy Gottlieb, Denis Jullien, Thierry Passeron, Sophie Vildy, Emmanuel Delaporte, Carle Paul, Julien Chollet, Marie Najean, Denis San, Charles Taieb, Bénédicte Charles, Emmanuel Mahe, Pierre-André Becherel, Laurent Misery

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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression by Daphne Wijnbergen, Mridul Johari, Ozan Ozisik, Peter A.C. ‘t Hoen, Friederike Ehrhart, Anaïs Baudot, Chris T. Evelo, Bjarne Udd, Marco Roos, Eleni Mina

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Correction to: PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

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The adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience by Lynne Broderick, April Foster, Laura Tesler Waldman, Laura Bordone, Aaron Yarlas

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Progression and mortality of patients with cystic fibrosis in China by Wangji Zhou, Yaqi Wang, Yanli Yang, Yanyan Sun, Chongsheng Cheng, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Xueqi Liu, Dingding Zhang, Song Liu, Weiguo Zhu, Yaping Liu, Kai-Feng Xu, Xinlun Tian

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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

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Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis by Robin Lochbaum, Thomas K. Hoffmann, Jens Greve, Janina Hahn

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Correction To: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

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Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters by Jingyi Li, Yang Lu, Xiqi Xu, Zhuang Tian, Jian Li, Shuyang Zhang

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Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder by Ming Li, Jingqi Lin, Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han, Yanlin Wang, Jian Wang, Renyi Hua, Shuyuan Li, Niu Li

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The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients’ perspective by Gudrun Salamon, Sophie Strobl, Marie-Stephanie Matschnig, Anja Diem

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Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction? by C. Antfang, A. Frommer, G. Gosheger, G. Toporowski, A. Laufer, J. D. Rölfing, R. Roedl, B. Vogt

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