Showing 21 - 40 results of 46 for search '"Orphanet Journal of Rare Diseases"', query time: 0.05s Refine Results
  1. 21
    Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption

    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

    Published 2025-02-01
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  2. 22
    The distribution and spectrum of thalassemia variants in GUIYANG region, southern China

    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

    Published 2025-02-01
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  3. 23
    Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study

    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

    Published 2025-02-01
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  4. 24
    Generalized pustular psoriasis: a multicentric study on patient characteristics and clinical burden

    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

    Published 2025-02-01
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  5. 25
    Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression

    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

    Published 2025-01-01
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  6. 26
    Unraveling the genetic spectrum of inherited deaf-blindness in Portugal

    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

    Published 2025-01-01
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  7. 27
    Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families

    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

    Published 2025-01-01
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  8. 28
    Analysis of prodromal symptoms and need for short-term prophylaxis in angioedema patients under long-term prophylaxis

    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

    Published 2025-02-01
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  9. 29
    Correction To: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

    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

    Published 2025-02-01
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  10. 30
    Improving prognostic evaluations in patients with stage IIIb light chain cardiac amyloidosis: role of haemodynamic parameters

    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

    Published 2025-01-01
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  11. 31
    Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder

    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

    Published 2025-02-01
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  12. 32
    Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?

    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

    Published 2025-01-01
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  13. 33
    Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester

    Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester by Huanyun Li, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Xinyu Fu, Jingqi Zhu, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong

    Published 2025-01-01
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  14. 34
    Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience

    Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience by Hao-Su Zhan, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Liang Zhang, En-Hui He, Guang-Peng Zhou, Hai-Ming Zhang, Zhi-Jun Zhu, Li-Ying Sun

    Published 2025-01-01
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  15. 35
    Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China

    Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China by Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng, Huiqiong Zhang, Zhiling Li, Yuxin Zhang, Min Yang

    Published 2025-01-01
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  16. 36
    Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

    Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study by Hiba Abid, Areeba Abid, Sarah Sohail, Sara Jawaid

    Published 2025-02-01
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  17. 37
    Clinical characteristics and prognosis of amyopathic dermatomyositis patients with interstitial lung disease: insights from a retrospective cohort

    Clinical characteristics and prognosis of amyopathic dermatomyositis patients with interstitial lung disease: insights from a retrospective cohort by Yanan Ying, Tingting Wu, Long Wang, Yun Zhang, Yiming Yu, Zaichun Deng, Qunli Ding

    Published 2025-02-01
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  18. 38
    Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center

    Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

    Published 2025-01-01
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  19. 39
    Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey

    Caregiver’s experiences with a mobile-based educational program and its impact on dietary treatment compliance of children with methylmalonic acidemia: an online survey by Qing Luo, Chunqin Liu, Lizhou Lin, Xuehua Liu, Huifang Chen

    Published 2025-01-01
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  20. 40
    Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life

    Peroral Endoscopic myotomy (POEM) in pediatric achalasia: a retrospective cohort on institutional experience and quality of life by Thijs Kuipers, Carlijn Mussies, Aaltje Lei, Gwen M.C. Masclee, Marc A. Benninga, Paul Fockens, Barbara A.J. Bastiaansen, Albert J. Bredenoord, Michiel P. van Wijk

    Published 2025-01-01
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