一个Goldenhar综合症自然村落的遗传学研究
31501017
2015
C0604.表型、行为与疾病的遗传学基础
杨永佳
青年科学基金项目
副研究员
湖南省儿童医院
22万元
Syndrome自然村落;综合症;Goldenhar;致病基因研究;遗传模式
2016-01-01到2018-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | Identification of a novel mutation confirms phenotypic variability of mutant XPG truncations | 期刊论文 | Yang Yongjia;Yao Xu;Luo Yongqi;Zhao Liu;Zhou Bin;Tu Ming;Zhao Rui |
| 2 | 多种儿童罕见疾病的遗传研究 | 奖励 | 杨永佳;祝益民;李梨平;赵蕊;涂明;赵溜 |
| 3 | BMPR1B mutation causes Pierre Robin sequence | 期刊论文 | Yang Yongjia;Yuan Jianying;Yao Xu;Zhang Rong;Yang Hui;Zhao Rui;Guo Jihong;Jin Ke;Mei Haibo;Luo Yongqi;Zhao Liu;Tu Ming;Zhu Yimin |
| 4 | Clinical and Genetic Study of children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation | 期刊论文 | Hongmei Zhao;Yongjia Yang;Jieyu You |
| 5 | Trisomy 3 Mosaicism in a 5-Year-Old Boy with Multiple Anomalies: A Very Rare Case | 期刊论文 | Yang Yong-jia;Yao Xu;Guo Jihong;Zhao Liu;Tu Ming;Qiou Jun;Zhao Rui;Luo Yongqi;Zhu Yi-min |
| 6 | XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans | 期刊论文 | Ya-Xin Zhang;Hai-Yu Li;Wen-Bin He;Yongjia Yang;Yue-Qiu Tan |
| 7 | XRCC2 mutation causes meiotic arrest, azoospermia and infertility. | 期刊论文 | Yang Yongjia;Guo Jihong;Dai Lei;Zhu Yimin;Hu Hao;Tan Lihong;Chen Weijian;Liang Desheng;He Jingliang;Tu Ming;Wang Kewei;Wu Lingqian |
| 8 | CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis | 期刊论文 | Yongjia Yang;Weihua Ye;Jihong Guo;Yu Zheng;Liping Li |
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