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机译:识别智者残疾女孩中的德诺伊1季度1Q22Q23231.1患有智力障碍的女孩和包括先天性心脏缺陷的多个先天性异常
Department of HumanMedical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University;
Department of HumanMedical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University;
Department of HumanMedical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University;
Department of HumanMedical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University;
Department of HumanMedical Genetics Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University;
Congenital heart defect; Intellectual disability; LMNA; Noonan syndrome; RIT1; 1q22q23.1 microdeletion;
机译:识别智者残疾女孩中的德诺伊1季度1Q22Q23231.1患有智力障碍的女孩和包括先天性心脏缺陷的多个先天性异常
机译:De Novo 14q24.2q24.3微缺失(包括IFT43)与智障,骨骼异常,心脏异常和近视相关
机译:CGH-SNP阵列在患有多种先天性异常(包括严重青光眼)的女孩中描述了从头开始的7q21.3q31.1缺失
机译:全国出生缺陷预防研究中的细颗粒物,极热事件和先天性心脏病之间的关联
机译:具有无法解释的智力障碍或发育迟缓,先天性异常和自闭症谱系障碍的斯洛文尼亚儿童的基因组结构变异的特征。
机译:新生代致病性CNV的父母起源有明显的偏见与智力残疾发育迟缓和多种先天性异常有关
机译:划分DE Novo 7Q21.3Q.31.1 CGH-SNP阵列在一个具有多个先天性异常的女孩中删除,包括严重的青光眼