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机译:一种新的ALG14肌病,癫痫,癫痫和进步性脑萎缩中的一种新的ALG14畸形变种
IRCCS Ist Sci Neurol Bologna Programma Neurogenet Via Altura 3 I-40139 Bologna Italy;
AOU Parma Mother &
Child Dept Child Neuropsychiat Unit Parma Italy;
AOU Parma UO Neurol Dipartimento Med Gen &
Specialist Parma Italy;
IRCCS Ist Sci Neurol Bologna Programma Neurogenet Via Altura 3 I-40139 Bologna Italy;
IRCCS Ist Sci Neurol Bologna Programma Neurogenet Via Altura 3 I-40139 Bologna Italy;
IRCCS Ist Sci Neurol Bologna Programma Neurogenet Via Altura 3 I-40139 Bologna Italy;
Univ Parma Neurosci Sect Dept Med &
Surg Child Neuropsychiat Unit Parma Italy;
IRCCS Ist Sci Neurol Bologna Programma Neurogenet Via Altura 3 I-40139 Bologna Italy;
机译:Exome Sequencing识别inrtn4ip1和删除变体与视神经萎缩,全球发育延迟,癫痫,共济失调和思科的删除变体识别
机译:严重的智力残疾,缺乏语言,癫痫,微头和渐进性小脑萎缩与复发性De Novo变种相关的萎缩。(P139L)的Thecamk2bgene:一个案例报告和简要审查
机译:De Novo MGC4607基因杂合性错义变异体在多发性脑海绵状畸形的儿童中
机译:双等位基因GRM7变异导致癫痫小头畸形和脑萎缩
机译:误解:多重系统萎缩性萎缩性萎缩和Parkinsonian变体进行皮质萎缩和铁含量的定量评估