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Chinese Journal of Medical Genetics
1003-9406
2011 Issue 6
Association study of a functional SNP rs28493229 of ITPKC gene and Kawasaki disease in a Chinese population
PENG Qian;CHEN Chang-hui;WU Qing;LI Bo;LIAO Jing;LUO Cai-dan;HU Xiao-ping;ZHENG Zhi;HE Hai-lan;ZHANG Yu
..............page:644-648
Optimized procedure for fluorescence in situ hybridization in rapid prenatal diagnosis of common aneuploidy
WU Jing;ZHONG Mei;LU Jian;PAN Xiao-ying;GUO Li;WANG Ting
..............page:658-660
Mutational analysis for FUT1 gene in two cases with para-Bombay blood type
XU De-yi;DENG Gang;HUANG Dan-dan;ZHAO Wei-jun
..............page:694-698
Investigation of 1q21 amplification in patients with multiple myeloma using I-FISH and cIg-FISH
YANG Rui-fang;LI Chun-ming;QIU Hai-rong;LU Hua;WU Han-xin;XU J ia-ren;ZHANG Peng;LI Jian-yong;CHEN Li-juan
..............page:686-689
Fluorescence in situ hybridization study of acute myeloid leukemia with cryptic chromosome rearrangements
BAI Shu-xiao;XUE Yong-quan;CHEN Su-ning;PAN Jin-lan;WU Ya-fang;SHEN Juan;WANG Yong;ZHANG Jun
..............page:690-693
A case with partial trisomy 7 (q34→qter)derived from a paternal reciprocal translocation t(7; 14)(q34;q32)
XIAO Bing;JI Xing;JIANG Wen-ring;ZHANG Jing-min;HU Qin;TAO Jiong
..............page:654-657
xian tian xing zuo lie xia xiao zong he zheng yi jia xi 11 li
jiang hai ou ; huang xue shuang ; xiang cai hua
..............page:657
Preliminary mapping of an autosomal dominant retinitis pigmentosa gene by linkage analysis
DING Feng;ZHOU Xin;YUAN Yuan;YAN Ming;ZHENG Fang
..............page:634-637
45,xx,-22,der(2)t(2;22)(q37;q11.2) yi li
zeng yan ; xu ping
..............page:707
Clinical application of multiplex ligation-dependent probe amplification for the detection exonic copy number alterations in the Dystrophin gene
LONG Fei;SUN Wei;JI Xing;LI Xi-hua;LIU Xiao-qing;JIANG Wen-ting;TAO Jiong
..............page:699-704
Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome
ZHU Hai-yan;HU Ya-li;ZHU Rui-fang;YANG Ying;ZHU Xiang-yu;WANG Wan-jun;DUAN Hong-lei
..............page:625-629
ran se ti yi chang he xing wu li
zhao li juan
..............page:719
fei jie zhuang ti yan de hong mo yi se zheng yi jia xi
han yao ; zuo xiao wei ; zhou na lei ; xu hou yin
..............page:716-717
Analysis of full intronic sequences of HLA-A alleles
LI Zhen;CHENG Liang-hong;ZOU Hong-yan;JIN Shi-zheng
..............page:638-643
19)伴反复流产一例
yang xing kun ; chen zhi hua ; guan da huo ; li xiang xin
..............page:717
46,xx,t(3;16) (p25; q24) yi li
wu zhi guang ; lv yan ling ; lan xin qiang
..............page:698
Chromosome 22q11.2 microdeletion and phenotype analysis of patients with non-syndromic tetralogy of Fallot
ZHANG Ze-wei;DENG Jian-ying;YING Li-yang;GAO Zhan;JIN Jie;QI Jian-chuan;TAN Zheng
..............page:708-711
22)(p21;q13)伴流产一例
shi jun ; chen jie ; yang qin ying ; jin bo ; zhou guang gui
..............page:643
Expressional changes of neuregulin-1 gene mRNA in peripheral blood from schizophrenia patients
ZHANG Hong-xing;LI Wen-qiang;ZHANG Hai-san;ZHANG Yan;ZHAO Jing-ping;LV Lu-xian;YANG Ge
..............page:620-624
dao wei ran se ti yi chang he xing si li
li lin ; liu wei dong
..............page:720
Analysis of sex chromosome mosaicisms in early cleavage-stage human embryos and blastocysts with poor embryo quality scores
OU Jian;WANG Wei;DING Jie;GU Bin;ZHENG Ai-yan;WANG Fu-xin;LI Hong
..............page:675-678
Detection of common deletions and mutations causing α-thalassemia in Southeast Asians and Southern Chinese with denaturing high performance liquid chromatography
JIA Xing-yuan;WEI Xiao-jing;TANG Ning;WANG Li-rong;HAN Han;ZHENG Mei-ling;CAI Ren;XIAO Bai;LIU Jing-zhong
..............page:670-674
jia zu xing zhen chan yi jia xi 19 li
zhang cheng qiu ; xin qing ; sun hai feng ; ge zhi ming
..............page:674
Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy
HE Sheng-xi;GE Xiu-shan;QU Yu-jin;JIN Yu-wei;WANG Hong;BAI Jin-li;SONG Fang
..............page:606-611
Analysis of an hereditary coagulation factor Ⅻ deficiency in a consanguineous pedigree
ZHANG Yang;XIE Hai-xiao;WANG Ming-shan;JIN Yan-hui;XIE Yao-sheng;ZHENG Fang-xiu
..............page:666-669
yi chuan xing huan rou yi jia xi ba li
shao yun ping
..............page:629
Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism
ZHA NG Qiong;JIANG Hai-ou;QUAN Qing-li;LI Jun;HE Ting;HUANG Xue-shuang
..............page:705-707
Association of ABCG2 gene C421A polymorphism and susceptibility of primary gout in Han Chinese males
LI Fa-gui;CHU Yi;MENG Dong-mei;TONG Ya-wen
..............page:683-685
Genetic analysis and prenatal diagnosis for a family with megalencephalic leukoencephalopathy and subcortical cysts
WU Wei-qing;XIE Jian-sheng;HAN Chun-xi;XU Zhi-yong;GENG Qian;YUAN Hui
..............page:616-619
ran se ti ping heng yi wei liang jia xi si li
zhu xiao yan ; li lin
..............page:611
Impact of five genetic polymorphisms on inter-individual variation in warfarin maintenance dose
HUANG Sheng-wen;XIANG Dao-kang;WU Hai-li;CHEN Bao-lin;AN Bang-quan;LI Gui-fang
..............page:661-665
Prenatal diagnosis for two families of congenital factor Ⅴ deficiency
CAO Li-juan;WANG Zhao-yue;LI Hong;WANG Wei;ZHANG Wei;DING Jie;YU Zi-qiang;BAI Xia;RUAN Chang-geng
..............page:679-682
ASS1 mutation leading to citrullinemia Ⅰ in a Chinese Han family
HU Ping;ZHOU Xiao-yan;MA Ding-yuan;SUN Yun;ZHANG Xiao-juan;HAN Shu-ping;YU Zhang-bin;JIANG Tap;CHEN Yu-lin;XU Zheng-feng
..............page:630-633
Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis
JIN Hua;LIN Peng-fei;WANG Qi-mei;MAO Fei;CAI Yan;GONG Yao-qin
..............page:601-605
6)(q34;q16)伴流产一例
..............page:715
Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis buliosa simplex with mottled pigmentation
LIU Xia;XIA Li;WANG Jing-xia;HAO Yan-jie;YANG Jing;LIU Feng-qin;GUO Rui
..............page:612-615
A new human leukocyte antigen class Ⅰ allele, HLA- B * 52:11*
LI Xiao-feng;ZHANG Xu;ZHANG Kun-lian;CHEN Yang;LIU Xian-zhi;LI Jian-ping
..............page:712-715