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机译:CNOT2 CNOT2的杂合,内瘤缺失概述了12Q15缺失综合征的表型
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Pediatric Cardiology and Cardiac SurgeryBambino Gesù Children's Hospital IRCCSRome;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Biomedical SciencesClinical Genetics Service Azienda Ospedaliero;
Department of Pediatric Cardiology and Cardiac SurgeryBambino Gesù Children's Hospital IRCCSRome;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
Department of Pediatric Cardiology and Cardiac SurgeryBambino Gesù Children's Hospital IRCCSRome;
Department of Medical GeneticsBambino Gesù Children's Hospital IRCCSRome Italy;
12q15; 12q deletion syndrome; CNOT2;
机译:CNOT2 CNOT2的杂合,内瘤缺失概述了12Q15缺失综合征的表型
机译:小鼠Williams-Beuren综合征关键间隔的杂合子缺失概括了人类疾病的大多数特征
机译:携带杂合的CAV3 T78M突变和D4Z4部分缺失的患者发生的纹状体肌肉疾病和面肩肱型营养不良样表型:“双重麻烦”重叠综合征的进一步证据
机译:使用高斯噪声模型从纯合子和杂合子缺失数据重建基因调控网络
机译:使用患者来源的hiPSC神经细胞表征与杂合CNTNAP2缺失相关的分子和细胞表型
机译:携带杂合的CAV3 T78M突变和D4Z4部分缺失的患者发生的纹状体肌肉疾病和面肩肱型营养不良样表型:双重麻烦重叠综合征的进一步证据
机译:小鼠Williams-Beuren综合征关键间隔的杂合子缺失概括了人类疾病的大多数特征