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机译:通过胎儿α患者的三次重复影响胎儿在一个家庭中通过整体exome测序复方杂合子Ryr1突变
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
Department of Fetal-Maternal Medicine Nagara Medical Center;
Department of Fetal-Maternal Medicine Nagara Medical Center;
Division of Molecular Genetics Institute for Comprehensive Medical Science Fujita Health;
Department of Obstetrics &
Gynecology Nagoya City University Graduate School of Medical Sciences;
机译:通过胎儿α患者的三次重复影响胎儿在一个家庭中通过整体exome测序复方杂合子Ryr1突变
机译:新化合物骨骼肌ryanodine受体(Ryr1)基因表现出胎儿Akinesia的骨骼肌突变:与先天性肌病联系
机译:通过靶向下一代测序鉴定KLHL40突变有助于在三个连续受影响的胎儿发生运动障碍变形序列的家庭中进行产前诊断。
机译:在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
机译:通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
机译:新化合物骨骼肌ryanodine受体(Ryr1)基因表现出胎儿Akinesia的骨骼肌突变:与先天性肌病联系
机译:具有疑似线粒体肌病患者的整体exome测序揭示了Ryr1中的新化合物杂合子变体