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Journal Abstract Search

181 related items for PubMed ID: 33224018

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  • 8. Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.
    Wu D, Ji C, Chen Z, Wang K.
    Am J Med Genet A; 2020 Nov; 182(11):2765-2772. PubMed ID: 32924309
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  • 10. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
    Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A.
    J Hum Genet; 2018 Jul; 63(7):847-850. PubMed ID: 29717186
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  • 11. NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.
    Wang L, Huang Y, Liu X.
    Transl Pediatr; 2023 Jun 30; 12(6):1278-1287. PubMed ID: 37427056
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  • 14. Valproate and clonazepam comedication in patients with intractable epilepsy.
    Mireles R, Leppik IE.
    Epilepsia; 1985 Jun 30; 26(2):122-6. PubMed ID: 3921350
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  • 18. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
    Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A, Begtrup A, McKnight D, Devinsky O, Chung WK.
    Clin Genet; 2017 May 30; 91(5):756-763. PubMed ID: 27568816
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  • 20. Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females.
    Zhang X, Chen N, Ma A, Wang X, Sun W, Gao Y.
    Medicine (Baltimore); 2018 Dec 30; 97(51):e13749. PubMed ID: 30572518
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