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MeSH:(Nervous System Diseases/*genetics)

1.Clinical report and genetic analysis of a child with Aicardi-Goutières syndrome type 3 due to compound heterozygous variants of RNASEH2C gene.

Juan LIU ; Jihong HU ; Rong QIN ; Yaqin DUAN ; Hongtao ZHOU ; Yujuan XIONG

Chinese Journal of Medical Genetics 2023;40(1):81-86

2.Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system.

Peixuan CAO ; Xiangyu ZHU ; Leilei GU ; Wei LIU ; Jie LI

Chinese Journal of Medical Genetics 2023;40(2):181-185

3.The p21-activated kinases in neural cytoskeletal remodeling and related neurological disorders.

Kaifan ZHANG ; Yan WANG ; Tianda FAN ; Cheng ZENG ; Zhong Sheng SUN

Protein & Cell 2022;13(1):6-25

4.Regulation of Glial Function by Noncoding RNA in Central Nervous System Disease.

Ying BAI ; Hui REN ; Liang BIAN ; You ZHOU ; Xinping WANG ; Zhongli XIONG ; Ziqi LIU ; Bing HAN ; Honghong YAO

Neuroscience Bulletin 2023;39(3):440-452

7.Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts.

Xiaolu CHEN ; Haibo QU ; Tao YU ; Rong LUO

Chinese Journal of Medical Genetics 2016;33(3):316-319

9.Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy.

Wei WANG ; Yali QIN ; Renbin WANG ; Weihe ZHANG ; Linwei ZHANG ; Lei CUI ; Ming JIN ; Yujuan JIAO ; Jingsong JIAO

Chinese Journal of Medical Genetics 2019;36(8):821-825

10.Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review.

Taoyun JI ; Jingmin WANG ; Huijuan LI ; Lirong ZHAO ; Yan SANG ; Ye WU

Chinese Journal of Pediatrics 2014;52(11):822-827

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