Works by Yan, Huifang


Results: 47
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    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

    Published in:
    2019
    By:
    • Pant, Devesh C;
    • Dorboz, Imen;
    • Schlüter, Agatha;
    • Fourcade, Stéphane;
    • Launay, Nathalie;
    • Joya, Javier;
    • Aguilera-Albesa, Sergio;
    • Yoldi, Maria Eugenia;
    • Casasnovas, Carlos;
    • Willis, Mary J;
    • Ruiz, Montserrat;
    • Ville, Dorothée;
    • Lesca, Gaetan;
    • Siquier-Pernet, Karine;
    • Desguerre, Isabelle;
    • Yan, Huifang;
    • Wang, Jinming;
    • Burmeister, Margit;
    • Brady, Lauren;
    • Tarnopolsky, Mark
    Publication type:
    journal article
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    Epilepsy in children with leukodystrophies.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 9, p. 2612, doi. 10.1007/s00415-020-09889-y
    By:
    • Zhang, Jie;
    • Ban, Tingting;
    • Zhou, Ling;
    • Ji, Haoran;
    • Yan, Huifang;
    • Shi, Zhen;
    • Cao, Binbin;
    • Jiang, Yuwu;
    • Wang, Jingmin;
    • Wu, Ye
    Publication type:
    Article
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    Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53484-9
    By:
    • Li, Jinliang;
    • Gao, Kai;
    • Cai, Shuying;
    • Liu, Yin;
    • Wang, Yuzhen;
    • Huang, Shaoping;
    • Zha, Jian;
    • Hu, Wenjing;
    • Yu, Shujie;
    • Yang, Zhixian;
    • Xie, Han;
    • Yan, Huifang;
    • Wang, Jingmin;
    • Wu, Ye;
    • Jiang, Yuwu
    Publication type:
    Article
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    FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder.

    Published in:
    EMBO Molecular Medicine, 2022, v. 14, n. 9, p. 1, doi. 10.15252/emmm.202215829
    By:
    • Fell, Christopher W;
    • Hagelkruys, Astrid;
    • Cicvaric, Ana;
    • Horrer, Marion;
    • Liu, Lucy;
    • Li, Joshua Shing Shun;
    • Stadlmann, Johannes;
    • Polyansky, Anton A;
    • Mereiter, Stefan;
    • Tejada, Miguel Angel;
    • Kokotović, Tomislav;
    • Achuta, Venkat Swaroop;
    • Scaramuzza, Angelica;
    • Twyman, Kimberly A;
    • Morrow, Michelle M;
    • Juusola, Jane;
    • Yan, Huifang;
    • Wang, Jingmin;
    • Burmeister, Margit;
    • Choudhury, Biswa
    Publication type:
    Article
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