Table of Contents
Special Topics
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders | |
Bei-sha TANG, Sheng ZENG, Kai LI | 471-476 |
Special Reviews
Strategies and problems of genetic diagnosis for neurogenetic diseases | |
Xun-hua LI, Ding-bang CHEN, Chao WU | 477-483 |
Recent study on primary familial brain calcification | |
You CHEN, Zhi-dong CEN, Wei LUO | 484-489 |
Genetic research advance on neurodegeneration with brain iron accumulation | |
Xiao-jun HUANG, Li CAO | 490-499 |
Application of gene detection in precision medicine of cerebrovascular disease | |
Xiao ZHE, Yan-chun DENG | 500-506 |
Neurogenetic Disorders
Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia | |
Wo-tu TIAN, Xiao-jun HUANG, Jun-yi SHEN, Yang-qi XU, Sheng-di CHEN, Li CAO | 507-512 |
Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy | |
Kun-ming XIE, Wei-hong GU, Ying HAO, Yuan-yuan CHEN, Jin ZHANG, Xin ZHANG | 513-518 |
Clinical phenotype and genetic characteristics of ataxia - telangiectasia: four cases report | |
Lan ZHENG, Xiao-li LIU, Li CAO | 519-525 |
Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria | |
LI Jing, Yi-ming SUN, Li-yu OU, Yu-ling ZHU, Liang WANG, Huan LI, Cheng ZHANG | 526-533 |
Clinical phenotype and genetic mutation of fatty acid hydroxylase - associated neurodegeneration: analysis of four cases | |
Xiao-jun HUANG, Xiao-li LIU, Tian WANG, Jun-yi SHEN, Sheng-di CHEN, Wei-guo TANG, Li CAO | 534-540 |
Review
Advances in research of invasion and recurrence of pituitary adenoma | |
Xiao-ling YAN, Xue-bin ZHANG | 541-545 |
Clinicopathologic Discussion
Paroxysmal limb weakness for ten years | |
Meng-yu ZHANG, Yan XU, Jian-zhong SHEN, Yin-chang YANG, Bin PENG, Li-ying CUI | 546-549 |
Picture of Clinical Medicine
Cellular schwannoma | |
Xiao-ling YAN | 525-525 |
Intraspinal enterogenous cyst | |
Tong HAN | 512-512 |
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ISSN: 1672-6731