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机译:患有发育延迟,癫痫和DE Novo平衡T(2; 8)易位的患者中的exoc6b中断
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
European Molecular Biology Laboratory (EMBL) Genomics Core Facility Heidelberg Germany;
Clinical Department of Pediatrics I Innsbruck Medical University Innsbruck Austria;
European Molecular Biology Laboratory (EMBL) Genomics Core Facility Heidelberg Germany;
European Molecular Biology Laboratory (EMBL) Korbel Lab Heidelberg Germany;
Institute of Human Genetics University of Heidelberg Heidelberg Germany;
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
European Molecular Biology Laboratory (EMBL) Genomics Core Facility Heidelberg Germany;
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
Division of Human Genetics Department of Medical Genetics Molecular and Clinical Pharmacology;
balanced translocation; gene disruption; next-generation sequencing;
机译:发育迟缓,癫痫和从头平衡t(2; 8)移位的患者中EXOC6B的破坏
机译:一名发育迟缓儿童的从头开始,显然平衡的易位,其母亲在怀孕时接受低剂量甲氨蝶呤治疗。
机译:轻度发育迟缓患者的从头6p间隙缺失和涉及染色体2、6和14的复杂易位。
机译:发育砂骨骼骨骼的证据反应鱼类中内分泌破坏化合物的MS潜在信号
机译:全 基因组测序 的 患者 效用 智障 和 发展迟缓 的 一线 诊断 测试策略
机译:具有发育延迟癫痫和从头平衡t(2; 8)移位的患者中EXOC6B的破坏
机译:患有发育延迟,癫痫和DE Novo平衡T(2; 8)易位的患者中的exoc6b中断