1003-515X
2016 Issue 20
..............page:1521-1524
er tong ka xue zhen duan yu zhi liao zhuan jia gong shi
zhong hua yi xue hui er ke xue fen hui hu xi xue zu ;, zhong hua shi yong er ke lin chuang za zhi bian ji wei yuan hui ;
zhong hua yi xue hui er ke xue fen hui hu xi xue zu ;, zhong hua shi yong er ke lin chuang za zhi bian ji wei yuan hui ;
..............page:1525-1530
Phenotype and gene mutation screening in familial Dravet syndrome
tian xiao juan ;, zhang yue hua ;, yang xiao ling ;, xu xiao zuo ;, liu ai jie ;, zeng zuo ;, liu xiao yan ;, yang zhi xian ;, jiang yu wu ;
tian xiao juan ;, zhang yue hua ;, yang xiao ling ;, xu xiao zuo ;, liu ai jie ;, zeng zuo ;, liu xiao yan ;, yang zhi xian ;, jiang yu wu ;
..............page:1531-1535
Clinical and molecular genetic analysis of six patients with GM1 gangliosidosis
ji hao ran ;, xiao jiang xi ;, li dong xiao ;, li gai mei ;, wu zuo ;, yan hui fang ;, yang yan ling ;, zhang yue hua ;, jiang yu wu ;
ji hao ran ;, xiao jiang xi ;, li dong xiao ;, li gai mei ;, wu zuo ;, yan hui fang ;, yang yan ling ;, zhang yue hua ;, jiang yu wu ;
..............page:1536-1540
Clinical significance of monitoring bone turnover markers changes before and after growth hormone treatment of prepubertal children with idiopathic short stature
Wang Fei;,Zhu Zhiying;,Liu Qingxu;,Xu Jing;,Li Pin;
Wang Fei;,Zhu Zhiying;,Liu Qingxu;,Xu Jing;,Li Pin;
..............page:1541-1545
The molecular diagnosis and their detailed clinical presentations in 5 cases of maturity-onset diabetes of the young
Liu Ziqin;,Song Fuying;,Liu Ying;,Qiu Mingfang;,Qian Ye;,Chen Xiaobo;
Liu Ziqin;,Song Fuying;,Liu Ying;,Qiu Mingfang;,Qian Ye;,Chen Xiaobo;
..............page:1546-1549
Study of copy number variations in children with unexplained mental retardation/brain development delay
Gao Jing;,Yang Yao;,Wu Honglin;,He Xiyu;
Gao Jing;,Yang Yao;,Wu Honglin;,He Xiyu;
..............page:1550-1555
..............page:1555
Clinical analysis of inherited metabolic diseases in the neonatal intensive care unit
Shi Huiying;,Yang Changyi;,Zhang Baoquan;,Xu Ying;,Zhang Yadi;,Cai Wenhong;
Shi Huiying;,Yang Changyi;,Zhang Baoquan;,Xu Ying;,Zhang Yadi;,Cai Wenhong;
..............page:1556-1558
Analysis of epidemic characteristics and clinical features of inpatients with pertussis in 2012-2014
Dou Cong;,Liu Fengqin;,Guo Chunyan;,Wang Jinrong;,Chen Xing;
Dou Cong;,Liu Fengqin;,Guo Chunyan;,Wang Jinrong;,Chen Xing;
..............page:1559-1562
Clinical features and ATP1A3 gene mutations in alternating hemiplegia of childhood patients with epilepsy
li shu pin ;, zhang yue hua ;, yang xiao ling ;, liu ai jie ;, yang zhi xian ;, liu xiao yan ;, wu zuo ;, wang shuang ;, bao xin hua ;
li shu pin ;, zhang yue hua ;, yang xiao ling ;, liu ai jie ;, yang zhi xian ;, liu xiao yan ;, wu zuo ;, wang shuang ;, bao xin hua ;
..............page:1563-1566
Effect of lipopolysaccharide-mediated infection during pregnancy on the expression of mineralocorticoid receptor and dendritic spines in hippocampus of rat offspring
Zhang Yongli;,Xu Jiali;,Wu De;,Zhou Rui;
Zhang Yongli;,Xu Jiali;,Wu De;,Zhou Rui;
..............page:1567-1570
Curative effect and prognosis comparison in treating children with bilateral Wilms tumor by retroperitoneal nephrectomy or transabdominal nephrectomy
song dong jian ;, yue li fang ;, yang he ying ;, fan ying zhong ;, liu qiu liang ;, zhang da ;, xia zi qiang ;, jia jia ;, zhang jun jie ;
song dong jian ;, yue li fang ;, yang he ying ;, fan ying zhong ;, liu qiu liang ;, zhang da ;, xia zi qiang ;, jia jia ;, zhang jun jie ;
..............page:1571-1574
Gene mutation detection of one patient with pyruvate dehydrogenase complex deficiency by using next generation sequencing
Liu Shu;,Liang Jinqun;,Ouyang Haimei;,Zeng Weihong;,Chen Nuan;,Jiang Jianhui;
Liu Shu;,Liang Jinqun;,Ouyang Haimei;,Zeng Weihong;,Chen Nuan;,Jiang Jianhui;
..............page:1575-1577
Clinical analysis of Prader-Willi syndrome in 10 children
Zhou Qiaoli;,Han Bei;,Zhu Ziyang;,Gu Wei;,Liu Qianqi;,Shi Xing;,Ni Shining;
Zhou Qiaoli;,Han Bei;,Zhu Ziyang;,Gu Wei;,Liu Qianqi;,Shi Xing;,Ni Shining;
..............page:1578-1579
Multiplex ligation-dependent probe amplification gene detection for diagnosis of 3 patients with Prader-Willi syndrome
Jiao Baoquan;,Li Wei;,Liu Fang;
Jiao Baoquan;,Li Wei;,Liu Fang;
..............page:1580-1581
Efficacy of recombinant human erythropoietin combined with exogenous single sialic acid four hexose ganglioside in treatment of median-severe neonatal hypoxic-ischemic encephalopathy
Zeng Qinghuang;,Zeng Renhe;
Zeng Qinghuang;,Zeng Renhe;
..............page:1582-1583
Two cases of Apert syndrome
Wang Lidan;,Huang Sui;,Liu Fan;,Chen Yu;
Wang Lidan;,Huang Sui;,Liu Fan;,Chen Yu;
..............page:1584-1585
A infantile Guillain-Barré syndrome less than 3-month-old
Zhu Hongmin;,Wu Gefei;,Mao Bing;,Sun Dan;,Sun Ruidi;,Liu Zhisheng;,Hu Jiasheng;
Zhu Hongmin;,Wu Gefei;,Mao Bing;,Sun Dan;,Sun Ruidi;,Liu Zhisheng;,Hu Jiasheng;
..............page:1586-1587
Clinical manifestation and molecular mechanism of FMR1 gene premutation
niu man man ;, han ying ;, qin jiong ;, du jun bao ;, jin hong fang ;, zhao yang ;, zhang jing ;, li qin zuo ;
niu man man ;, han ying ;, qin jiong ;, du jun bao ;, jin hong fang ;, zhao yang ;, zhang jing ;, li qin zuo ;
..............page:1588-1590
Medical treatment of peripheral precocious puberty
Yang Luhong;,Yao Hui;
Yang Luhong;,Yao Hui;
..............page:1591-1594
Research progress of changes in thyroid function in short stature children both before and after therapy
Wang Ying;,Liang Furong;
Wang Ying;,Liang Furong;
..............page:1595-1597
Study progress of autoimmune hepatitis in children
Zou Tingting;,Zhan Xue;
Zou Tingting;,Zhan Xue;
..............page:1598-1600