Results 121 to 130 of about 183,892 (152)

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Liu D, Li A, Yu C, Ding X, Sun F, Qian X, Gao X, Zhu G.   +7 more
europepmc   +1 more source

[Clinical characteristics and prognosis of acute myeloid leukemia patients with RUNX1 single-site and multiple-site gene mutations]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Li C, Wu YX, Ma X, Chen SN, Wu DP, Hu XH.   +5 more
europepmc   +1 more source

中国南方汉族群体27个Y-STR基因座的遗传多态性及 突变研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2015
摘 要: 【目的】 调查27个Y-STR基因座在中国南方汉族群体的遗传多态性及突变情况?【方法】 采集885名中国南方汉族无关男性个体血样和911对父子血样,采用Yfiler?誖Plus扩增体系对样本进行扩增,并进行毛细管电泳检测与分型,统计相关遗传多态性参数,观察Y-STR基因座突变情况? 【结果】 885名无关男性个体中共观察到880种单倍型,其中875种单倍型为唯一单倍型,5种单倍型分别出现两次?单倍型多样性(HD)为0.999 987 2,系统识别能力(DC)为0.994 350 3?27个Y ...
doaj  

[Myeloproliferative neoplasm with a homozygous germline SH2B3 mutation: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Zhang W, Li R, Tian J, Jiang LJ, Bai J, Gu YH, Wang YY, Su Y, Li YQ, Xue YM, Chen JM, Wei YP.   +11 more
europepmc   +1 more source

衰老脑海马CA1区突触结构的可塑性变化

Zhongshan Daxue xuebao. Yixue kexue ban, 1992
用E-PTA负染色和锇酸（O3 O4）处理普通透射电镜方法结合形态计量和体视学分析年青（3个月）和老年（27个月）SD大鼠海马CA1区分子层突触结构,结果显示衰老时海马CA1区突触形态结构发生了一系列退行性和代偿性变化:单位体积的突触数量（Nv）,突触连接带总面积（Sv）明显减少,突触前终末内突触囊泡、线粒体数亦明显减少。突触后膜致密物厚度变薄,而突触接触带的平均长度则代偿性增大。突触间隙宽度,突触前终末剖面积,突触后终末棘器数无明显改变 ...
doaj  

[Analysis of risk factors for early death in NPM1-mutated acute myeloid leukemia patients]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Wang LL, Shu MK, Dou XQ, Ma YN, Jiang R, Chen HH, Cheng YX, Chen SN.   +7 more
europepmc   +1 more source

[Value of gene mutation in the prognosis and treatment of multiple myeloma]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Cheng LL, Zhuang JL.
europepmc   +1 more source

[The cochlear extracellular matrix gene mutations and hearing loss]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Wang Q, Yuan Y, Han W.
europepmc   +1 more source

A novel A-to-G mutation in circBDP1 alters adipocyte proliferation and differentiation and affects bovine carcass traits. [PDF]

J Zhejiang Univ Sci B
Jiang E, Zhang C, He Z, Zhang Y, Yang Y, Pan C, Jiang F, Song E, Zhang S, Lan X.   +9 more
europepmc   +1 more source

[A Case of EGFR-mutant Lung Adenocarcinoma with Secondary SCLC Transformation and ALK Fusion after Osimertinib Treatment]. [PDF]

Zhongguo Fei Ai Za Zhi
Liao L, Li X.
europepmc   +1 more source