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[Analysis of SCN1A deletions or duplications in patients with Dravet syndrome].
Zeng Q, Zhang Y, Yang X, Xu X, Zhang J, Tian X, Liu A, Liu X, Jiang Y, Wu X. Zeng Q, et al. Among authors: zhang j, zhang y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):787-791. doi: 10.3760/cma.j.issn.1003-9406.2017.06.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 29188601 Chinese.
Mosaicism and incomplete penetrance of PCDH19 mutations.
Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y. Liu A, et al. Among authors: zhang j, zhang y. J Med Genet. 2019 Feb;56(2):81-88. doi: 10.1136/jmedgenet-2017-105235. Epub 2018 Oct 4. J Med Genet. 2019. PMID: 30287595 Free PMC article.
Phenotypes of GNAO1 Variants in a Chinese Cohort.
Yang X, Niu X, Yang Y, Cheng M, Zhang J, Chen J, Yang Z, Zhang Y. Yang X, et al. Among authors: zhang j, zhang y. Front Neurol. 2021 May 28;12:662162. doi: 10.3389/fneur.2021.662162. eCollection 2021. Front Neurol. 2021. PMID: 34122306 Free PMC article.
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q, Yang Y, Duan J, Niu X, Chen Y, Wang D, Zhang J, Chen J, Yang X, Li J, Yang Z, Jiang Y, Liao J, Zhang Y. Zeng Q, et al. Among authors: zhang j, zhang y. Front Mol Neurosci. 2022 Mar 30;15:809951. doi: 10.3389/fnmol.2022.809951. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35431799 Free PMC article.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: zhang yh, zhang j. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
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