高媛
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Gender:Female
Paper Publications
- [11] 李杰. 一个抗维生素D佝偻病家系中VPHEX 基因的新剪切突变. 中华医学遗传学, 2017.
- [12] 徐佩文. 一个常染色体显性遗传性多囊肾病家系的PKD1基因新剪切位点突变. 中华医学遗传学, 2017.
- [13] 邹洋. 微滴式数字PCR在脊肌萎缩症基因检测和产前诊断中的应用. 中华医学遗传学, 2017.
- [14] 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.
- [15] 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.
- [16] 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.
- [17] 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.
- [18] 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.
- [19] 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.
- [20] 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.