Clinical standards and interpretation of gene sequence variants in human Mendelian disordersTANG Bei-sha, ZENG Sheng, LI Kai471-476
Strategies and problems of genetic diagnosis for neurogenetic diseasesLI Xun-hua, CHEN Ding-bang, WU Chao477-483
Genetic research advance on neurodegeneration with brain iron accumulationHUANG Xiao-jun, CAO Li490-499
Application of gene detection in precision medicine of cerebrovascular diseaseZHE Xiao, DENG Yan-chun500-506
Clinical phenotype analysis of paroxysmal kinesigenic dyskinesiaTIAN Wo-tu, HUANG Xiao-jun, SHEN Jun-yi, XU Yang-qi, CHEN Sheng-di, CAO Li507-512
Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophyXIE Kun-ming, GU Wei-hong, HAO Ying, CHEN Yuan-yuan, ZHANG Jin, ZHANG Xin513-518
Clinical phenotype and genetic characteristics of ataxia-telangiectasia: four cases reportZHENG Lan, LIU Xiao-li, CAO Li519-525
Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduriaLI Jing, SUN Yi-ming, OU Li-yu, ZHU Yu-ling, WANG Liang, LI Huan, ZHANG Cheng526-533
Clinical phenotype and genetic mutation of fatty acid hydroxylase-associated neurodegeneration: analysis of four casesHUANG Xiao-jun, LIU Xiao-li, WANG Tian, SHEN Jun-yi, CHEN Sheng-di, TANG Wei-guo, CAO Li534-540
