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机译:用眼睑肌蛋白染色的de novo naa10突变的情况(又名jeavons综合征)
Department of Child Neurology Children’s Hospital of Pittsburgh of UPMC;
Department of Child Neurology Children’s Hospital of Pittsburgh of UPMC;
Department of Child Neurology Children’s Hospital of Pittsburgh of UPMC;
Department of Genetics Children’s Hospital of Pittsburgh of UPMC;
Jeavons syndrome; Ogden syndrome; Eyelid myoclonias;
机译:用眼睑肌蛋白染色的de novo naa10突变的情况(又名jeavons综合征)
机译:NAA10基因的从头错义突变导致男性和女性严重的非综合征发育延迟
机译:具有NAA10功能障碍的女孩的严重综合征ID和偏孔X-失活,新型杂合子DE NOVO NONA10 p。(HIS16PRO)变体 - 案例报告
机译:通过来自体外活化B细胞慢性淋巴细胞白血病细胞超深序的De Novo IghV突变检测:活化诱导的脱氨酶功能的证据
机译:患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
机译:NAA10基因的从头错义突变导致男性和女性严重的非综合征发育延迟
机译:不存在眼睑肌阵挛(耶凡斯综合征):明确的特发性全身性癫痫综合征或一系列光敏性疾病?