高媛山东大学主页平台管理系统--生殖中心高媛

高媛

职称：研究员
所在单位：生殖医学研究中心

教师拼音名称：gaoyuan
电子邮箱：gaoyuan@sduivf.com
入职时间：2020-08-01
所在单位：生殖医学研究中心
办公地点：趵突泉校区
性别：女
联系方式：18668953611
在职信息：在职
是否在职：1
硕士生导师

论文成果

[16] 康冉冉. GLI3基因新突变导致多指（趾）并指（趾）畸形一家系. 《中华医学遗传学杂志》, 2017.
[17] 黄色新. 一例SMN1基因型疑为“2+0”型脊肌萎缩症家系的确认. 中国优生与遗传杂志, 2016.
[18] 高明. 导致先天性白内障的CRYGD基因的一个新突变. 中华医学遗传学杂志, 2016.
[19] 徐佩文. A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family. BMC Medical Genetics, 19, 2018.
[20] 高媛. Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center. PRENATAL DIAGNOSIS, 2021.
[21] 高媛. Noncarrier embryo selection and transfer in preimplantation genetic testing cycles for reciprocal translocation by Oxford Nanopore Technologies. 《JOURNAL OF GENETICS AND GENOMICS》, 47, 2020.
[22] 王丽娟. 一个着色性干皮病C组家系XPC基因的新突变. 中华医学遗传学, 2019.
[23] 黄色新. Complex preimplantation genetic tests for Robertsonian translocation, HLA and X-Linked Hyper IgM Syndrome caused by a novel mutation of CD40LG gene. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2020.
[24] 徐佩文. A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly. FRONTIERS IN GENETICS, 2020.
[25] 徐佩文. A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly. FRONTIERS IN GENETICS, 11, 2020.

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