Zhongshan Daxue xuebao. Yixue kexue ban, 2008 心-手综合征,又称Holt-Oram综合征、上肢心血管综合征,是一种少见的常染色体显性遗传性疾病,其特征为心血管畸形和骨骼的畸形。由于外显性的差异,其临床表现多种多样。本文报道一例25岁男性心-手综合征患者,临床表现中左手骨骼明显畸形,心血管畸形中除了常见的卵圆孔未闭和膜部室间隔缺损,先天性血管环(右位主动脉弓并迷走左锁骨下动脉)和左室心肌致密化不全未见文献报道。
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[Efficacy and safety of perampanel add-on therapy in children with epilepsy of genetic etiology]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiYi JQ, Sun D.
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Zhongshan Daxue xuebao. Yixue kexue ban, 2013 【目的】 调查Investigator R DIPplex体系包含的30个插入/缺失多态性(Indel)位点在中国广东汉族人群中的群体遗传学数据,评估其法医学应用价值?【方法】 采集300名广东汉族无关个体(150名男性,150名女性)外周血样,提取样本DNA,采用Investigator?誖DIPplex体系对HLD77等30个Indel位点进行复合扩增,阵列毛细管电泳进行扩增产物分离,GeneMapper ID-X v1.2软件进行基因分型,使用相关统计软件计算常用法医学参数并进行Hardy ...
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[Application of the variant allele frequency of myeloid-associated gene mutations in myelodysplastic syndrome]. [PDF]
Zhonghua Xue Ye Xue Za ZhiShang MY, Su L.
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[<i>PLCE1</i> mutation-induced end-stage renal disease presenting with massive proteinuria: a family analysis and literature review]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiAbasi R +5 more
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[Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia]. [PDF]
Zhonghua Xue Ye Xue Za ZhiHu YJ +5 more
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[Expression of GPRC5D in newly diagnosed patients with multiple myeloma detected by flow cytometry and its prognostic value]. [PDF]
Zhonghua Xue Ye Xue Za ZhiJin CQ, Yan F, Ma A, Xu KL, Xia JY.
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[The analysis of gene screening results for common hereditary hearing loss in 2 102 pregnant women in Dali area]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za ZhiWang B, Ma F, Tian C.
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[Advances in Multi-omics Analysis of Cervical Cancer]. [PDF]
Sichuan Da Xue Xue Bao Yi Xue BanWang J, Xiao X, Yao Y.
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[Causal relationship between autoimmune diseases and aplastic anemia: A Mendelian randomization study]. [PDF]
Nan Fang Yi Ke Da Xue Xue BaoLi W +6 more
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