mosaicism相关论文
Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Ca
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目的探讨胎儿游离DNA(cell-free fetal DNA,cffDNA)检测对13-、18-和21-三体以外的常染色体非整倍体的检测效能及其产前诊断策略。方......
目的探讨孕中期产前诊断羊水染色体嵌合体的临床指征及妊娠结局。方法对2011年5月至2016年10月,在我院行羊水染色体核型分析诊断疑......
MosaicBase:A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy H
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human......
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Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Ca
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Cytogenetic Mechanism for the Aneuploidy and Mosaicism Found in Tetraploid Pacific Oyster Crassostre
Chromosome constitution was investigated in adult tetraploid Pacific oyster produced by blocking the first polar body of......
In the case of a previous offspring with trisomy 21,recurrence risk for Down syndrome is about 1%.1 It may be due to cha......
目的:对1个同时存在血友病A(HA)及血友病B(HB)患者的家系进行分子发病机制研究,并对家系女性成员进行携带者检测。方法:采用活化部分凝血......
目的对染色体嵌合型的病例运用荧光原位杂交技术(FISH)进行目标染色体诊断。方法对1例常规G带显色分析后疑似为性染色体嵌合体核型者......