Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy (vol 42, pg 438, 2020)

Na Ji-Hoon; Shin Saeam; Yang Donghwa; Kim Borahm; Kim Heung Dong; Kim Sehee; Lee Joon-Soo; Choi Jong-Rak; Lee Seung-Tae; Kang Hoon-Chul

首页> 外文期刊>Brain & Development >Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy (vol 42, pg 438, 2020)

【24h】

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy (vol 42, pg 438, 2020)

机译：早期婴儿发病发育和癫痫脑病（Vol 42，PG 438,2020）的靶向基因面板测序

获取原文

获取原文并翻译 | 示例

获取外文期刊封面封底 >>

开具论文收录证明 >>

文献代查 >>

团队文献服务 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Brain & Development 》 |2021年第1期| 共1页
作者
Na Ji-Hoon; Shin Saeam; Yang Donghwa; Kim Borahm; Kim Heung Dong; Kim Sehee; Lee Joon-Soo; Choi Jong-Rak; Lee Seung-Tae; Kang Hoon-Chul;
展开▼
作者单位

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

Yonsei Univ Coll Med Dept Lab Med Seoul South Korea;

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

Yonsei Univ Coll Med Dept Lab Med Seoul South Korea;

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

Yonsei Univ Coll Med Dept Lab Med Seoul South Korea;

Yonsei Univ Severance Childrens Hosp Div Pediat Neurol Dept Pediat Coll Med Epilepsy Res Inst;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学 ;
关键词

相似文献

外文文献
中文文献
专利

1. Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder [J] . Han-Chih Hencher Lee, Nike Kwai-Cheung Lau, Chun-Wing Yeung, 中华医学杂志（英文版） . 2018 ,第018期
2. Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23 [J] . Bing Bai, Yi-Ran Guo, Yin-Hong Zhang, 中华医学杂志（英文版） . 2019 ,第005期
3. Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy [J] . Li-Li Liu, Xin-Lin Hou, Dan-Dan Zhang, 中华医学杂志（英文版） . 2017 ,第023期
4. Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing [J] . Bing-Qing Yu, Zhao-Xiang Liu, Yin-Jie Gao, 亚洲男性学杂志（英文版） . 2021 ,第001期
5. Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel [J] . Hirabayashi Kyoko, Uehara Daniela Tiaki, Abe Hidetoshi, Journal of human genetics . 2019 ,第11期

机译：83例早期发育和癫痫脑病的83例儿童复制数变异分析在109癫痫基因面板的靶向重新开始后
6. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR 45 WDR WDR 45 [J] . Carvill Gemma L., Liu Aijie, Mandelstam Simone, Epilepsia: Journal of the International League against Epilepsy . 2018 ,第1期

机译：严重的婴儿发病发病发育和癫痫患者自噬基因WDR 45 WDR 45 WDR 45的突变引起
7. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR 45 WDR WDR 45 [J] . Carvill Gemma L., Liu Aijie, Mandelstam Simone, Epilepsia: Journal of the International League against Epilepsy . 2018 ,第1期

机译：严重的婴儿发病发病发育和癫痫患者自噬基因WDR 45 WDR 45 WDR 45的突变引起
8. Detection of Fetal Single Gene Mutations through Targeted Sequencing of Maternal cell-free DNA [C] . Junghyun Namkung IEEE International Conference on Bioinformatics and Biomedicine . 2020

机译：通过母细胞无细胞DNA靶向测序检测胎儿单基因突变
9. Evaluation of a Precision Medicine Approach for hnRNP U-Related Developmental Epileptic Encephalopathy Using a Mouse Model of Disease [D] . Dugger, Sarah Anne. 2020

机译：使用小鼠疾病模型评估HNRNP U相关发育癫痫患者的精确药物方法
10. Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With Developmental and Epileptic Encephalopathy [O] . Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, 2020

机译：基因面板在具有智力残疾或发育和癫痫脑病个体中基因面板测序鉴定SetBP1突变
11. Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy [O] . Géza Berecki, Katherine L. Helbig, Tyson L. Ware, 2020

机译：与婴儿发作发育和癫痫发育和癫痫发育相关的新型畸形CACNA1G突变

Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy (vol 42, pg 438, 2020)

著录项

相似文献

相关主题

期刊订阅