Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: RARS2[original query] |
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet journal of rare diseases 2014 9 (1): 23. Eggens Veerle Rc, Barth Peter G, Niermeijer Jikke-Mien F, Berg Jonathan N, Darin Niklas, Dixit Abhijit, Fluss Joel, Foulds Nicola, Fowler Darren, Hortobágyi Tibor, Jacques Thomas, King Mary D, Makrythanasis Periklis, Máté Adrienn, Nicoll James A R, O'Rourke Declan, Price Sue, Williams Andrew N, Wilson Louise, Suri Mohnish, Sztriha Laszlo, Dijns-de Wissel Marit B, van Meegen Mia T, van Ruissen Fred, Aronica Eleonora, Troost Dirk, Majoie Charles Blm, Marquering Henk A, Poll-Thé Bwee Tien, Baas Fra |
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. Clinical genetics 2019 8 96 (6): 566-574. Shakya Sunil, Kumari Renu, Suroliya Varun, Tyagi Nishu, Joshi Aditi, Garg Ajay, Singh Inder, Kalikavil Puthanveedu Divya, Cherian Ajith, Mukerji Mitali, Srivastava Achal K, Faruq Mohamm |
Molecular epidemiology of hereditary ataxia in Finland. BMC neurology 2021 10 21 (1): 382. Lipponen Joonas, Helisalmi Seppo, Raivo Joose, Siitonen Ari, Doi Hiroshi, Rusanen Harri, Lehtilahti Maria, Ryytty Mervi, Laakso Markku, Tanaka Fumiaki, Majamaa Kari, Kytövuori Lau |
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis. Scientific reports 2023 3 13 (1): 4193. Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fa |
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