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MeSH:(Codon, Nonsense/genetics*)

2.Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency.

Kai Qi JIA ; Zheng Xian SU ; Hui Lin CHEN ; Xiao Yong ZHENG ; Man Lin ZENG ; Ke ZHANG ; Long Ying YE ; Li hong YANG ; Yan Hui JIN ; Ming Shan WANG

Chinese Journal of Hematology 2023;44(11):930-935

3.Genome-wide Association Studies for Osteoporosis: A 2013 Update.

Yong Jun LIU ; Lei ZHANG ; Christopher J PAPASIAN ; Hong Wen DENG

Journal of Bone Metabolism 2014;21(2):99-116

5.A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.

Qian LI ; Yongpeng ZHANG ; Liyun JIA ; Xiaoyan PENG ;

Chinese Medical Journal 2014;127(24):4190-4196

6.Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene.

Xue-shuang HUANG ; Hai-ou JIANG ; Qing-li QUAN

Chinese Journal of Medical Genetics 2012;29(4):452-454

7.A novel pathogenic mutation of CRYGD gene in a congenital cataract family.

Ming GAO ; Sexin HUANG ; Jie LI ; Yang ZOU ; Peiwen XU ; Ranran KANG ; Yuan GAO

Chinese Journal of Medical Genetics 2016;33(4):515-518

9.Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Shu-Zhi YANG ; Ju-Yang CAO ; Rui-Ning ZHANG ; Li-Xian LIU ; Xin LIU ; Xin ZHANG ; Dong-Yang KANG ; Mei LI ; Dong-Yi HAN ; Hui-Jun YUAN ; Wei-Yan YANG

Chinese Medical Journal 2007;120(1):46-49

10.Analysis of genetic variants in a pedigree affected with hereditary multiple osteochondroma.

Xiaoyan GUO ; Qinqin ZHENG ; Mingrui LIN ; Yiyuan ZHANG ; Tengfei SHI

Chinese Journal of Medical Genetics 2021;38(6):549-552

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