机译:SCN8A相关癫痫患者中严重的骨质损失和多重骨折
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Neuropediatrics University Medical Center Hamburg-Eppendorf;
Department of Neuropediatrics University Medical Center Hamburg-Eppendorf;
Department of Human Genetics University Medical Center Hamburg-Eppendorf;
Department of Human Genetics University of Michigan;
Department of Legal Medicine University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf;
Epileptic encephalopathy; Osteoclast; Neridronate; SCN8A;
机译:SCN8A相关癫痫患者中严重的骨质损失和多重骨折
机译:既获得函数和函数丧失缺陷NovoCaCNA 1A de Novo Cacna CaCNA 1A突变导致Lennox-Gastaut综合征的光谱中的严重发育癫痫脑病
机译:在Wwox基因的SDR结构域中的一种新的畸形变体导致Wwox蛋白的损失,具有早起的癫痫脑病和严重发育延迟
机译:严重烧伤后儿童的骨质损失:骨折和成人发病骨质疏松症的风险增加
机译:非典型骨折并严重抑制骨转换的患者的骨质量。
机译:De Novo SCN8A和遗传性稀有CACNA1H变体与严重发育和癫痫患者相关
机译:脑内UGP2的丧失导致严重的癫痫脑病,强调生物等异构体的必要基因的特异性起始损失突变会导致遗传疾病