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Journal Abstract Search

201 related items for PubMed ID: 35658366

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  • 3. [Clinical features of epilepsy in children with IRF2BPL gene variation].
    Niu Q, Yang Y, Niu XY, Chen Y, Liu WW, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2021 Jun 02; 59(6):506-510. PubMed ID: 34102826
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  • 4. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
    Tian XJ, Wang XH, Ding CH, Fang F, Dai LF, Deng J, Wang HM.
    Zhonghua Er Ke Za Zhi; 2022 Mar 02; 60(3):232-236. PubMed ID: 35240744
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  • 6. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
    Liu WW, Yang Y, Niu XY, Cheng MM, Wang S, Wu Y, Yang ZX, Liu XY, Cai LX, Jiang YW, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2021 Oct 02; 59(10):859-864. PubMed ID: 34587683
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  • 9. [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].
    Wang DH, Niu XY, Cheng MM, Chen Y, Yang Y, Yang XL, Yang ZX, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2022 Dec 02; 60(12):1317-1321. PubMed ID: 36444437
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  • 11. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y, Zhang YH, Chen JY, Ma JH, Sun D, Yang XL, Zhang J, Chen Y, Wu XR.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):118-122. PubMed ID: 32102148
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  • 13. [Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ].
    Lang CH, Yang Y, Niu XY, Yang XL, Chen Y, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2020 Jul 02; 58(7):586-590. PubMed ID: 32605344
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  • 15. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P, Xue J, Jiao XR, Zhang YH, Yang ZX.
    Zhonghua Er Ke Za Zhi; 2020 Jan 02; 58(1):35-40. PubMed ID: 31905474
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  • 16. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants.
    Nardello R, Fontana A, Mangano GD, Efthymiou S, Salpietro V, Houlden H, Mangano S.
    Epileptic Disord; 2020 Feb 01; 22(1):111-115. PubMed ID: 32031527
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  • 18. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
    Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.
    Am J Med Genet A; 2014 Oct 01; 164A(10):2557-66. PubMed ID: 25123255
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  • 19. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S, Li J, Wu Y, Jiang Y.
    J Hum Genet; 2020 Jul 01; 65(7):601-608. PubMed ID: 32203252
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  • 20. [Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases].
    Wang H, Yan YC, Li Q, Zhang Z, Xiao P, Yuan XY, Li L, Jiang Q.
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 May 01; 21(5):468-473. PubMed ID: 31104665
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