Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Disease and POLR3A[original query] |
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| The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 2018 4 19 (2): 111-121. Travaglini Lorena, Aiello Chiara, Stregapede Fabrizia, D'Amico Adele, Alesi Viola, Ciolfi Andrea, Bruselles Alessandro, Catteruccia Michela, Pizzi Simone, Zanni Ginevra, Loddo Sara, Barresi Sabina, Vasco Gessica, Tartaglia Marco, Bertini Enrico, Nicita Frances |
| Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
| Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Clinical genetics 2019 Feb 95 (2): 320-324. Kotan Leman D, Isik Emregul, Turan Ihsan, Mengen Eda, Akkus Gamze, Tastan Mehmet, Gurbuz Fatih, Yuksel Bilgin, Topaloglu A Kem |
| First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
| Hypomyelinating leukodystrophies in adults: Clinical and genetic features. European journal of neurology 2020 11 28 (3): 934-944. Di Bella Daniela, Magri Stefania, Benzoni Chiara, Farina Laura, Maccagnano Carmelo, Sarto Elisa, Moscatelli Marco, Baratta Silvia, Ciano Claudia, Piacentini Sylvie H M J, Draghi Lara, Mauro Elena, Pareyson Davide, Gellera Cinzia, Taroni Franco, Salsano Etto |
| Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients. Frontiers in endocrinology 2021 9 12 711991. Yu Chenxi, Xie Bobo, Zhao Zhengye, Zhao Sen, Liu Lian, Cheng Xi, Li Xiaoxin, Cao Bingyan, Shao Jiashen, Chen Jiajia, Zhao Hengqiang, Yan Zihui, Su Chang, Niu Yuchen, Song Yanning, Wei Liya, Wang Yi, Ren Xiaoya, Fan Lijun, Zhang Beibei, Li Chuan, Gui Baoheng, Zhang Yuanqiang, Wang Lianlei, Chen Shaoke, Zhang Jianguo, Wu Zhihong, Gong Chunxiu, Fan Xin, Wu N |
| Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. Neuropathology : official journal of the Japanese Society of Neuropathology 2021 11 42 (1): 58-65. Sytsma Trevor M, Chen Dong-Hui, Rolf Bradley, Dorschner Michael, Jayadev Suman, Keene C Dirk, Zhang Jing, Bird Thomas D, Latimer Caitlin |
| Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. Journal of medical genetics 2023 5 . Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Berna |
| Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants. European journal of human genetics : EJHG 2024 9 . Gaby Schobers, Maartje Pennings, Juliette de Vries, Michael Kwint, Jeroen van Reeuwijk, Jordi Corominas Galbany, Ronald van Beek, Eveline Kamping, Raoul Timmermans, Erik-Jan Kamsteeg, Lonneke Haer-Wigman, Frans P M Cremers, Susanne Roosing, Christian Gilissen, Hannie Kremer, Han G Brunner, Helger G Yntema, Lisenka E L M Visse |
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