中国优生与遗传杂志
Chinese Journal of Birth Health & Heredity
主办单位:中国优生科学协会 中日友好医院
国内期刊:11-3743/R
年份刊次
2026
2025
2024
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医学遗传学课程思政库的构建与教学融合实践研究%Research on the construction of ideological and political resource database for medical genetics and its integration into teaching practice 作者:朱艳萍,陈超,谭洁琼,黄文 页码:194-202PHOX2B基因突变致先天性中枢性低通气综合征1型%PHOX2B gene mutation leading to congenital central hypoventilation syndrome type 1 作者:廖涣柔,刘玲,李烨姗,陈柔熠,蔡娜莉,曾词正,林少珠,敖当 页码:163-167LINC00662靶向miR-497-5p对子宫内膜癌细胞恶性生物学行为的影响%Effect of LINC00662 targeting mir-497-5p on the malignant biological behaviors of endometrial cancer cells 作者:徐丽娜,张雪松,闫凤洁,刘英杰,汪霄 页码:20-281例胎儿巨膀胱的遗传机制探讨:母源性MYOCD基因变异作为潜在致病原因的限性遗传模式%A case study on the genetic mechanism of fetal megacystis:A sex-limited inheritance pattern with maternal MYOCD gene mutation as a potential pathogenic cause 作者:李翔,曾丽庭,黄泽薇,付帅 页码:159-162人类健康中基因与环境的交互作用%Gene-environment interactions in human health—Research advances in birth defects 作者:赵浩朗,万千雪,贾仲林 页码:214-220铜陵地区G6PD缺乏症新生儿患病率及临床相关变异谱分析%Prevalence of G6PD deficiency in newborns and analysis of clinically relevant mutation spectrum in the Tongling region 作者:李凤芹,杨雪梅,周靖青,李刚,方红英,李椿萱,骆文龙 页码:61-67数字健康技术在早产儿照护中的应用研究热点及趋势可视化分析%Research hotspots and trend visualization of the application of digital health technology in the care of premature infants 作者:付雨欣,成茹芳,姚晓转,牛雨欣 页码:188-193不同孕周地贫基因携带者孕妇血常规指标的临床应用研究%Clinical application study of routine hematological indicators in pregnant women carrying the mediterranean anemia gene at different gestational weeks 作者:郑允樵,林小玲,项延包,徐雪琴 页码:111-11417q12微缺失/微重复综合征5例%Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome 作者:黄倩梦,谢爱兰,楼文文,王荣跃 页码:122-1261例儿童肝豆状核变性家系表型与基因变异分析%Phenotypic and genetic analysis of a Wilson disease pedigree in a child 作者:林婵婵,童郁 页码:135-138