日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the SLC6A1 Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient

由SLC6A1基因中一种新的从头杂合错义变异引起的肌阵挛-失张力性癫痫：文献简述及一名重度智力障碍成年男性患者的详细病例描述

期刊:International Medical Case Reports Journal
影响因子:0.6
doi:10.2147/IMCRJ.S390636
Verhoeven, Willem; Zuijdam, José; Scheick, Anneke; van Nieuwenhuijsen, Frederiek; Zwemer, Anne-Suus; Pfundt, Rolph; Egger, Jos
癫痫
神经科学
发表日期：2022
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A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

患有严重智力障碍的成年女性的从头 CTNNB1 新型剪接变异体

期刊:International Medical Case Reports Journal
影响因子:0.6
doi:10.2147/IMCRJ.S270487
Verhoeven, Willem M A; Egger, Jos I M; Jongbloed, Rob E; van Putten, Marloes Meijer; de Bruin-van Zandwijk, Marieke; Zwemer, Anne-Suus; Pfundt, Rolph; Willemsen, Marjolein H
发表日期：2020
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