Results 121 to 130 of about 29,393 (166)

[The natural history of the relationship between <i>OTOF</i> mutation-related genotypes and audiological phenotypes]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Han L, Chen L, Yu S, Chen Y, Jiang L, Han S, Zhong J, Guo L, Li H, Shu Y.   +9 more
europepmc   +1 more source

[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Wang M, Chen TP, Jiang AS, Zhao YH, Zhu CL, Wei N, Jin YT, Qu LJ.   +7 more
europepmc   +1 more source

[Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease]. [PDF]

Zhonghua Gan Zang Bing Za Zhi
Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD.   +5 more
europepmc   +1 more source

A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Jin Z, Guo J, Yuan Y, Meng L, Li H, Zhao Y, Ren J, Ma Y, Xiao ZS, Zhang H, Yang L, Dou C, Wang X, Wang J, Shen W.   +14 more
europepmc   +1 more source

[Genetic variants analysis of 17 female patients with idiopathic hypogonadotropic hypogonadism]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Chen Q, Wang H, Liu Y, Zhi X.
europepmc   +1 more source

西北地区冠心病患者ApoE基因多态性分布研究以及对他汀类药物使用的指导意义

Zhongguo shiyan zhenduanxue
目的 探讨我国西北地区冠心病患者ApoE基因多态性分布情况。方法 选取西安交通大学第一附属医院冠心病治疗患者2 388例，检测ApoE的基因型，统计基因型及等位基因分布特征，并对比国内外其他地区基因型及等位基因分布差异。结果 E3E3、E3E4、E2E3、E2E4、E4E4、E2E2,分别占患者总数的70.31%、15.20%、11.93%、1.30%、0.75%、0.50%。检测出ApoE E2、E3及E4等位基因频率分别为7.12%、83.88%、9.00%。不同性别 ...
张琳, 杨爽, 张素雅, 马文兵
doaj  

[Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis]. [PDF]

Hua Xi Kou Qiang Yi Xue Za Zhi
Zheng Y, Wang D, Jiang T, Yang D, Lu H.
europepmc   +1 more source

[Clinical and molecular characteristics of neonatal <i>Klebsiella</i><i>pneumoniae</i> sepsis]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Hebei Provincial Neonatal Sepsis Research Collaboration Group.
europepmc   +1 more source

Physiological analysis of fruit ripening mutants and their application in breeding for long shelf-life [PDF]

, 1994
Lu, C, Xu, H, Yang, R, Yu, W
core  

[Acute megakaryoblastic leukemia with CBFA2T3::GLIS2 fusion gene: 3 cases report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi
Lin S, Guo Y, Zhang L, Chen YM, Xiao JG, Cai XJ, Yang WY, Chen XJ.   +7 more
europepmc   +1 more source