目的 本国际临床指南由欧洲残疾儿童学会(the European Academy of Childhood Disability,EACD)牵头制定,旨在解决发育性协调障碍(developmental coordination disorder,DCD)的定义、诊断、评估、干预以及与社会心理方面的临床应用关键问题。 方法 本指南针对五个领域的关键问题,通过文献综述和专家团队的正式讨论达成共识。为保证指南的循证基础,以“机制”、“评估”和“干预”为检索词, 对2012年更新以来提出的最新建议以及新增的“社会心理问题”和“青少年/成人”为检索词进行检索。根据牛津大学循证医学中心证据等级 (证据水平 [level of evidence, LOE]1–4) 将结果进行分类,最终转化为指南建议。并由国际 ...
Jing Hua +6 more
wiley +1 more source
摘 要: 【目的】 分析圆头精子症患者的遗传学发病机制。 【方法】 回顾分析1例圆头精子症患者,对其进行多种遗传学方法的检测,包括染色体检查、Y染色体微缺失基因检测及通过array-CGH芯片技术和Sanger测序筛查候选基因DPY19L2、PICK1、SPATA16。 【结果】 该患者在我中心行两个卵胞浆内单精子显微注射(ICSI)周期后,其妻孕足月剖宫产一对异卵双胞胎女儿。患者染色体核型为46,XY、Y染色体微缺失基因检测未见异常,array-CGH芯片检测排除了DPY19L2 ...
doaj
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[Clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia in children]. [PDF]
Luo YX +4 more
europepmc +1 more source

