Results 161 to 170 of about 25,505 (191)
["Chongqing experiences" in treatment of bone infections]. [PDF]
Zhongguo Xiu Fu Chong Jian Wai Ke Za ZhiXie Z.
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[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWang Q +5 more
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[How I treat acquired clotting factor deficiency]. [PDF]
Zhonghua Xue Ye Xue Za ZhiZhang L, Gu WJ.
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[Diffuse large B-cell lymphoma with acquired von Willebrand syndrome: a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWang FD +6 more
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[Research progress on biologics and therapeutic drug monitoring in pediatric inflammatory bowel disease]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiPan TT, Yang HL, Zhou SH, Sun H.
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目的 探讨一个姑表近亲结婚导致的遗传性凝血因子Ⅴ（FⅤ）缺陷症家系分子致病机制。 方法 检测家系成员（3代7人）凝血参数和先证者及其父亲的凝血活酶生成量。用Sanger测序法分析先证者F5基因全部外显子，发现突变位点后反向测序证实，再检测家系成员相应位点。运用多个在线软件预测突变位点的保守性及致病性。依据美国医学遗传学与基因组学学会（ACMG）指南标准化评估该突变点位的致病性。 结果 先证者凝血酶原时间（PT）、活化部分凝血酶原时间（APTT）分别为52.2 s、108.3 s，FⅤ活性（FⅤ∶C ...
朗译 Langyi 秦 Qin +6 more
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目的 探讨一个姑表近亲结婚导致的遗传性凝血因子Ⅴ（FⅤ）缺陷症家系分子致病机制。 方法 检测家系成员（3代7人）凝血参数和先证者及其父亲的凝血活酶生成量。用Sanger测序法分析先证者F5基因全部外显子，发现突变位点后反向测序证实，再检测家系成员相应位点。运用多个在线软件预测突变位点的保守性及致病性。依据美国医学遗传学与基因组学学会（ACMG）指南标准化评估该突变点位的致病性。 结果 先证者凝血酶原时间（PT）、活化部分凝血酶原时间（APTT）分别为52.2 s、108.3 s，FⅤ活性（FⅤ∶C ...
朗译 Langyi 秦 Qin +6 more
semanticscholar +1 more source