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and involve several genes implicated in various steps of brain development. Haploinsufficiency of the mouse orthologue of YWHAE causes a defect of neuronal migration. However, . et al. 0 the human counterpart of this phenotype was not known. The case described here represents the smallest reported deletion involving the YWHAE gene and could represent the human counterpart of the abnormal cortical organisation phenotype presented by the Ywhae heterozygous knockout mouse.;2010-02;07/03/2016 15:16;23/06/ - issue: - volume: - pages: .
both AMC2 (402.7, . et al. 0 n = 11) and AMC3 (476.8 represented by lower walki - issue: - volume: - pages: .
Graillon, T. et al. 0 Surgical indications for pituitary tumors during pregnancy: a literature review Purpose Surgical indications for pituitary tumors during pregnancy are rare, and are derived from a balance between expected benefits, particularly for maternal benefits, and anesthetic/surgical... - issue: - volume: - pages: .
Front Cell Dev Biol. 2022 Dec 8, . et al. 0 Parenti I 10.3389/fcell.2022.1019715 - issue: - volume: - pages: .
improved the lifespan and reduced motor defects, . et al. 0 suggesting a new therapeutic strategy for Rett syndrome.;2012-02;07/03/2016 15:14;23/06/2020 08:43;;786-795;;2;45;;Neurobiol. Dis.;;;;;;;;eng;;;;;PubMed;;PMID: 22127389 - issue: - volume: - pages: .
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Pierre, . et al. 0 Cécile; Chabrol neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was... - issue: - volume: - pages: .
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tubulin cofactor D (TBCD), . et al. 0 crucial in microtubule assembly and disassembly. Sequencing of the non-duplicated allele showed a TBCD missense mutation we propose that genetic - issue: - volume: - pages: .