Table of Contents

Special Topics

Clinical standards and interpretation of gene sequence variants in human Mendelian disorders PDF
Bei-sha TANG, Sheng ZENG, Kai LI 471-476

Special Reviews

Strategies and problems of genetic diagnosis for neurogenetic diseases PDF
Xun-hua LI, Ding-bang CHEN, Chao WU 477-483
Recent study on primary familial brain calcification PDF
You CHEN, Zhi-dong CEN, Wei LUO 484-489
Genetic research advance on neurodegeneration with brain iron accumulation PDF
Xiao-jun HUANG, Li CAO 490-499
Application of gene detection in precision medicine of cerebrovascular disease PDF
Xiao ZHE, Yan-chun DENG 500-506

Neurogenetic Disorders

Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia PDF
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 PDF
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 PDF
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 PDF
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 PDF
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 PDF
Xiao-ling YAN, Xue-bin ZHANG 541-545

Clinicopathologic Discussion

Paroxysmal limb weakness for ten years PDF
Meng-yu ZHANG, Yan XU, Jian-zhong SHEN, Yin-chang YANG, Bin PENG, Li-ying CUI 546-549

Picture of Clinical Medicine

Cellular schwannoma PDF
Xiao-ling YAN 525-525
Intraspinal enterogenous cyst PDF
Tong HAN 512-512


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ISSN: 1672-6731