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成果/Result
- 1Effects of Altitude and Duration of Different Levels of Hypoxic Exposure on Hypoxia-Inducible Factor-1α in Rat Tissues被引量：6收藏
- 作者：Li, Xiao-lin Wang, Wei-gang Li, Mao-xing Liu, Tian-long Tian, Xiu-yu
- 机构：Chinese Peoples Liberat Army;Gansu Univ Chinese Med;Gansu Plateau Pharmaceut Technol Ctr;Lanzhou Univ;Northwest Minzu Univ
- 来源：HIGH ALTITUDE MEDICINE & BIOLOGY 2022年23卷2期
- JCR：三分区
- 影响因子：2.1
- 关键词：HIF-1 alpha hypoxia altitude hypoxia duration
- 2Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B被引量：4收藏
- 作者：Li, Danyang Zhou, Bingbo Tian, Xinyuan Chen, Xue Wang, Yupei
- 机构：Gansu Prov Matern & Child Care Hosp;Gansu Univ Tradit Chinese Med;Gansu Prov Matern & Child Care Hosp
- 来源：MOLECULAR GENETICS & GENOMIC MEDICINE 2024年12卷1期
- JCR：三分区
- 影响因子：1.5
- 关键词：CNV-seq CSNK2B epilepsy frameshift variant Poirier-Bienvenu neurodevelopmental syndrome WES
- 3Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness被引量：3收藏
- 作者：Tian, Xinyuan Zhang, Chuan Zhou, Bingbo Chen, Xue Feng, Xuan
- 机构：Gansu Univ Chinese Med;Gansu Prov Matern & Child Hlth Hosp
- 来源：FRONTIERS IN GENETICS 2022年13卷
- JCR：一分区
- 影响因子：3.7
- 关键词：GJB2 gene palmoplantar keratoderma hearing loss dominant variant mosaicism
- 4Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family被引量：0收藏
- 作者：Tian, Xinyuan Zhang, Xiaoni Zhang, Qinghua Chen, Xue Zhou, Bingbo
- 机构：Gansu Prov Matern & Child Care Hosp;Gansu Univ Chinese Med;Gansu Prov Matern & Child Care Hosp
- 来源：MOLECULAR GENETICS & GENOMIC MEDICINE 2024年12卷1期
- JCR：三分区
- 影响因子：1.5
- 关键词：EXTL3 gene immune skeletal dysplasia with neurodevelopmental abnormalities immune system function abnormalities neurodevelopmental deficits skeletal abnormalities
