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机译:三名患者患血清综合征,表现出阿枯病和内分泌异常
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
Department of Medical GeneticsOsaka Women's and Children's HospitalOsaka Japan;
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
Department of Pediatric GastroenterologyNutrition and Endocrinology Osaka Women's and Children's;
Department of Human GeneticsGraduate School of Biomedical Sciences Tokushima UniversityTokushima;
Department of Human GeneticsGraduate School of Biomedical Sciences Tokushima UniversityTokushima;
Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;
Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;
Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
Department of PediatricsKindai University Faculty of MedicineOsaka Japan;
arthrogryposis multiplex congenita; endocrinologic abnormalities; MAGEL2; Prader–Willi syndrome; Schaaf–Yang syndrome;
机译:三名患者患血清综合征,表现出阿枯病和内分泌异常
机译:肥胖在肥硕阳综合征的致命结果中的作用:魔法突变的患者早期发作病态肥胖
机译:通过鉴定Magel2基因的突变证实了两种波兰患者的两种波兰患者的表型
机译:非小细胞肺癌患者中医阴冷阳热证型与EGFR基因状态的关系
机译:在诊断为Beckwith-Wiedemann综合征的患者中观察到后颅窝畸形和其他CNS异常
机译:最初诊断为Opitz-C的患者中MAGEL2的从头无意义突变:Schaaf-Yang和Opitz-C综合征之间的相似性
机译:没有发现突变的来自Brugada综合征患者的hiPSC衍生的心肌细胞未表现出明显的细胞电生理异常