Journal of Peking University(Health Sciences) 2006 Issue 1 bei jing da xue xue bao ( yi xue ban ) gao yue

bei jing da xue xue bao ( yi xue ban ) gao yue

..............page:116-封三

bei jing da xue xue bao ( yi xue ban ) di ba jie bian ji wei yuan hui di yi ci hui yi ji yao

..............page:102

Principal genetic syndromes and autism: from phenotypes, proteins to genes
Meng HOU;Man-jie WANG;Nanbert ZHONG

..............page:110-115

Clinical and genetic features of DYT1 and DYT5
Xiao-zhu WANG;Nanbert ZHONG

..............page:107-109

Newborn screening of inherited metabolic diseases by tandem mass spectrometry
Chun-li YU;Xue-fan GU

..............page:103-106

Lysosomal storage disorders
Yong QU

..............page:100-102

Medical genetic issues in clinical of pediatric neurology practice: a history of pediatrics in Peking University First Hospital
Xi-ru WU

..............page:94-99

9p subtelomere deletion: pathogenic mutation or normal variant?
C. TECHAKITTIROJ;K.C. KIM;H. ANDERSSON;Marilyn M. LI

..............page:92-93

Comparison of efficacy and toxicity profile between intraperitoneal and intravenous topotecan in human ovarian cancer xenografts
Xiao-fang YI;Shi-ming FAN;Ming YAO;You-ji FENG

..............page:88-91

Prognostic factors and survival of stage ⅠB-ⅡA cervical cancer
Xi-shi LIU;Xiao-fang YI;Min ZHAO;Sun-wei GUO

..............page:80-87

No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients
Shu-juan SONG;Yuan-zhi ZHANG;Biao CHEN;Man-jie WANG;Yue-ying WANG;Yuan-jin ZHANG;Ming YAN;Nanbert ZHONG

..............page:78-79

Novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context
Chuan-xing LI;Lei DU;Xia LI;Bin-sheng GONG;Jie ZHANG;Shao-qi RAO

..............page:74-77

Decision forest analysis of large-scale sib-pair identical-by-decent profiles for locating the underlying disease genes for alcoholism in human
Xia LI;Shao-qi RAO;Wei ZHANG;Zheng GUO;Wei JIANG;Lei DU

..............page:71-73

The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy(X-ALD)
Li-li PING;Xin-hua BAO;Ai-hua WANG;Hong PAN;Ye WU;Hui XIONG;Yue-hua ZHANG;Yu-wu JIANG;Jiong QIN;Xi-ru WU

..............page:66-70

Study of microsatellite instability in epithelial ovarian tumors
Yuan LU;Xi-shi LIU;Yue-xiang WANG;Hou-yan SONG;Nanbert ZHONG

..............page:62-65

The frequency of chromosome 7q interstitial deletions associated with B-cell lymphoproliferative disorders is substantially high among hematological malignancies
Gary LU;John ZHANG;Katherine PAUPER

..............page:57-61

Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy
Qing LI;Shao-ying LI;Dong-gui HU;Xiao-fang SUN;Dun-jin CHEN;Cheng ZHANG;Wei-ying JIANG

..............page:53-56

Chromosomal abnormalities and adverse pregnancy outcome with maternal serum second trimester triple screening test for fetal Down syndrome in 4 860 Chinese women
Yan-ping XIA;Ming-wei ZHU;Xiao-tian LI;He-ping ZHOU;Jing WANG;Ju-xiang LV;Nanbert ZHONG

..............page:49-52

Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings
Weina JU;Anetta WRONSKA;Dorota N. MOROZIEWICZ;Rocksheng ZHONG;Natalia WISNIEWSKI;Anna JURKIEWICZ;Michael FIORY;Krystyna E. WISNIEWSKI;Lance JOHNSTON;W. Ted BROWN

..............page:41-48

N-terminal segments are the functional domains of CLN3-encoded battenin for protein interactions
Dorota N. MOROZIEWICZ;Weina JU;Rocksheng ZHONG;Nanbert ZHONG

..............page:38-40

Medical genetic testing in the United States
Bin CHEN;Linda A. BRADLEY

..............page:35-37

Current genetic counseling in China
Yuan-zhi ZHANG;Nanbert ZHONG

..............page:33-34

Quality management for molecular diagnostic laboratory
Tian-jian CHEN;Yue-ying WANG;Xi-yu HE

..............page:30-32

Enhance the diagnosis of hereditary renal diseases in pediatric field in China
Jie DING

..............page:28-29

Our experience and commentaries on improving clinical laboratory services in China
Li-ming BAO

..............page:25-27

Mapping and identification of disease responsible genes based on genetic resource reservation and bioinformatics approach
Jia-hui XIA;Kun XIA;Qian PAN;Zhi-gao LONG;He-ping DAI;Ling-qian WU;De-sheng LIANG;Fang CAI

..............page:21-24

Experience of medical genetics in Hong Kong
Stephen TS LAM

..............page:17-20

The prospect and current situation of prenatal diagnosis in mainland China
Bin WANG

..............page:14-16

History of medical genetics in China
Shang-zhi HUANG;Yi-zhi GAO

..............page:9-13

Medical genetics: a hope of translational medicine
Yang KE

..............page:8-8

Peking University Center of Medical Genetics (PUCMG): a comprehensive medical genetics program in China
Nanbert ZHONG

..............page:6-7