Results 81 to 90 of about 27,949 (148)
[A case report of Crohn's disease in a child with trisomy 8]. [PDF]
Xing J, Xu J, Liu ZF, Cheng WX.
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[Amplification of Extrachromosomal Oncogene and Tumorigenesis and Development]. [PDF]
Wang Y +6 more
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[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report]. [PDF]
Sun YY, Liu H, Liu M, Mei SY, Ma YL.
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[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review]. [PDF]
Li CY +7 more
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Genetic analysis of <i>UMOD</i> gene mutation in autosomal dominant tubulointerstitial kidney disease. [PDF]
Zhang Y +5 more
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[APL-like leukemia with chromosomal translocation t(16;17): a case report and literature review]. [PDF]
Wang Q, Lyu TX, Ai H, Lyu XD, Yin QS.
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[Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss]. [PDF]
Lin Y, Xu J, Yang T.
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【目的】 探讨多发畸形胎儿的产前诊断特征及其与染色体异常的关系。【方法】 对853例产前诊断胎儿进行研究,根据超声检测检出多发畸形与否,分为多发畸形组(n = 103)及非畸形组(对照组,n = 750),行常规染色体核型分析;收集相关临床资料:分析胎儿畸形超声发现时期、畸形类别、畸形数目、染色体异常率和异常类型以及染色体异常与多发畸形的相关性。【结果】 两组胎儿比较,染色体异常率(多发畸形组43.69%,对照组0.93%),性别比(多发畸形组1.94,对照组0.97),产前诊断孕周[多发畸形组(25 ±
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