共 50 条
[41]
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family
[J].
Deng, Yuyuan
;
Niu, Zhijie
;
Fan, LiangLiang
;
Ling, Jie
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Chen, Hongsheng
;
Cai, Xinzhang
;
Mei, Lingyun
;
He, Chufeng
;
Zhang, Xuewei
;
Wen, Jie
;
Li, Meng
;
Li, Wu
;
Li, Taoxi
;
Sang, Shushan
;
Liu, Yalan
;
Feng, Yong
.
JOURNAL OF HUMAN GENETICS,
2018, 63 (06)
:723-730

Deng, Yuyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp, Key Lab Otolaryngol Major Dis Res Hunan Prov, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Niu, Zhijie
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Fan, LiangLiang
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Ling, Jie
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Inst Precis Med, Xiangya Hosp, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Chen, Hongsheng
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp, Key Lab Otolaryngol Major Dis Res Hunan Prov, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Cai, Xinzhang
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Mei, Lingyun
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp, Key Lab Otolaryngol Major Dis Res Hunan Prov, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

He, Chufeng
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Zhang, Xuewei
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Hlth Management Ctr, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Wen, Jie
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Li, Meng
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Li, Wu
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Li, Taoxi
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Sang, Shushan
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Liu, Yalan
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp, Key Lab Otolaryngol Major Dis Res Hunan Prov, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China

Feng, Yong
论文数: 0 引用数: 0
h-index: 0
机构:
Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
Cent S Univ, Ctr Med Genet, Changsha, Hunan, Peoples R China
Cent S Univ, Xiangya Hosp, Key Lab Otolaryngol Major Dis Res Hunan Prov, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Otolaryngol, Changsha, Hunan, Peoples R China
[42]
Novel c.971A>G mutation in the HTRA1 gene in a Chinese family with CARASIL
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Hou, M. M.
;
Mao, X. W.
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Liu, X. B.
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Liu, Y. Q.
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Bi, X. Y.
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Hou, X. J.
.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS,
2020, 34 (04)
:1407-1410

Hou, M. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China

Mao, X. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China

Liu, X. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China

Liu, Y. Q.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China

Bi, X. Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China

Hou, X. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China Second Mil Med Univ, Dept Neurol, Shanghai Changhai Hosp, 168 Changhai Rd, Shanghai 200433, Peoples R China
[43]
Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome
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Yin, Hou-fa
;
Fang, Xiao-yun
;
Jin, Chong-fei
;
Yin, Jin-fu
;
Li, Jin-yu
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Zhao, Su-juan
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Miao, Qi
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Song, Feng-wei
.
JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B,
2014, 15 (01)
:43-50

Yin, Hou-fa
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Fang, Xiao-yun
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Jin, Chong-fei
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Yin, Jin-fu
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Li, Jin-yu
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Zhao, Su-juan
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Miao, Qi
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China

Song, Feng-wei
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
Zhejiang Prov Key Lab Ophthalmol, Hangzhou 310009, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Ctr Eye, Affiliated Hosp 2, Hangzhou 310009, Zhejiang, Peoples R China
[44]
Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing
[J].
Huang, Xiangjun
;
Yuan, Lamei
;
Xu, Hongbo
;
Zheng, Wen
;
Cao, Yanna
;
Yi, Junhui
;
Guo, Yi
;
Yang, Zhijian
;
Li, Yu
;
Deng, Hao
.
BIOSCIENCE REPORTS,
2018, 38

Huang, Xiangjun
论文数: 0 引用数: 0
h-index: 0
机构:
Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Yuan, Lamei
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Xu, Hongbo
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Zheng, Wen
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Cao, Yanna
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Dept Ophthalmol, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Yi, Junhui
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Dept Ophthalmol, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Guo, Yi
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Informat Secur & Big Data Res Inst, Dept Med Informat, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Yang, Zhijian
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Li, Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China

Deng, Hao
论文数: 0 引用数: 0
h-index: 0
机构:
Cent South Univ, Xiangya Hosp 3, Ctr Expt Med, Changsha, Hunan, Peoples R China
Cent South Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China
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Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
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Tan, Yuxia
;
Hou, Mei
;
Ma, Shaochun
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Liu, Peipei
;
Xia, Shungang
;
Wang, Yu
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Chen, Liping
;
Chen, Zongbo
.
BMC MEDICAL GENETICS,
2018, 19

Tan, Yuxia
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China
Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo 255029, Shandong, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Hou, Mei
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Dept Pediat Rehabil, Affiliated Qingdao Women & Childrens Hosp, Qingdao 266034, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Ma, Shaochun
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Dept Pediat Neurol, Affiliated Qingdao Women & Childrens Hosp, Qingdao 266034, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Liu, Peipei
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Xia, Shungang
论文数: 0 引用数: 0
h-index: 0
机构:
Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo 255029, Shandong, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Wang, Yu
论文数: 0 引用数: 0
h-index: 0
机构:
Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo 255029, Shandong, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Chen, Liping
论文数: 0 引用数: 0
h-index: 0
机构:
Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo 255029, Shandong, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China

Chen, Zongbo
论文数: 0 引用数: 0
h-index: 0
机构:
Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China Qingdao Univ, Dept Pediat, Affiliated Hosp, 59 Haier Rd, Qingdao 266000, Peoples R China
[46]
A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
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Xianxian Yuan
;
Lin Lu
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Shi Chen
;
Jun Jiang
;
Xiangqing Wang
;
Zhihui Liu
;
Huijuan Zhu
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Hui Pan
;
Zhaolin Lu
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BMC Endocrine Disorders,
18

Xianxian Yuan
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Lin Lu
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Shi Chen
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Jun Jiang
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Xiangqing Wang
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Zhihui Liu
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Huijuan Zhu
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Hui Pan
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology

Zhaolin Lu
论文数: 0 引用数: 0
h-index: 0
机构: Peking Union Medical College Hospital,Department of Endocrinology
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Glutaric acidemia type Ⅱ patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations:A case report and review of literature
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Neslihan Yildirim Saral
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Fehime Benli Aksungar
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Cigdem Aktuglu-Zeybek
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Julide Coskun
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Ozlem Demirelce
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Mustafa Serteser
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World Journal of Clinical Cases,
2018, (14)
:786-790

Neslihan Yildirim Saral
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories

Fehime Benli Aksungar
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories

Cigdem Aktuglu-Zeybek
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories

Julide Coskun
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories

Ozlem Demirelce
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories

Mustafa Serteser
论文数: 0 引用数: 0
h-index: 0
机构: Department of Clinical Biochemistry and Metabolism, Acibadem Labmed Clinical Laboratories
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The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model
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Chen, Xiaoming
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Cai, Cijing
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Lun, Shaocong
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Ye, Qiuli
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Pan, Weiyuan
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Chen, Yushi
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Wu, Yuexuan
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Feng, Taoshan
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Su, Faming
;
Ma, Choudi
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Luo, Jiaxin
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Liu, Meilian
;
Ma, Guoda
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FRONTIERS IN ENDOCRINOLOGY,
2023, 14

Chen, Xiaoming
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China
Macau Univ Sci & Technol, Fac Chinese Med, Ave Wai Long, Taipa, Macau, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Cai, Cijing
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China
Guangdong Med Univ, Shunde Women & Childrens Hosp, Maternal & Childrens Hlth Res Inst, Foshan, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Lun, Shaocong
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Ye, Qiuli
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Tradit Chinese Med, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Pan, Weiyuan
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Chen, Yushi
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Wu, Yuexuan
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Feng, Taoshan
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Su, Faming
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Ma, Choudi
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Luo, Jiaxin
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Liu, Meilian
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Dept Pulm Oncol, Affiliated Hosp, Zhanjiang, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China

Ma, Guoda
论文数: 0 引用数: 0
h-index: 0
机构:
Guangdong Med Univ, Shunde Women & Childrens Hosp, Maternal & Childrens Hlth Res Inst, Foshan, Peoples R China
Guangdong Med Univ, Key Lab Res Maternal & Child Med & Birth Defects, Foshan, Peoples R China Guangdong Med Univ, Dept Endocrinol, Affiliated Hosp, Zhanjiang, Peoples R China
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Novel KMT5B variant associated with neurodevelopmental disorder in a Chinese family: A case report
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Tong, Jiao
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Chen, Xu
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Wang, Xin
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Men, Shuai
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Liu, Yuan
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Sun, Xun
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Yan, Dongmei
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Wang, Leilei
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HELIYON,
2024, 10 (07)

Tong, Jiao
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Chen, Xu
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Wang, Xin
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Men, Shuai
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Liu, Yuan
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Sun, Xun
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Yan, Dongmei
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
9 Qindongmen St, Lianyungang 222000, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China

Wang, Leilei
论文数: 0 引用数: 0
h-index: 0
机构:
Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
669 Qindongmen St, Lianyungang 222000, Peoples R China Lianyungang Maternal & Child Hlth Hosp, Lianyungang, Jiangsu, Peoples R China
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Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature
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Han, Ting
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WORLD JOURNAL OF CLINICAL CASES,
2020, 8 (03)
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Li, Yun-Ling
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Dermatol,Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Dermatol,Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China

Han, Ting
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Childrens Hlth Care,Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Dermatol,Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China

Hong, Fang
论文数: 0 引用数: 0
h-index: 0
机构:
Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Genet & Metab,Childrens Hosp, 3333 Bingsheng Rd, Hangzhou 310052, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Natl Clin Res Ctr Child Hlth, Dept Dermatol,Childrens Hosp, Hangzhou 310052, Zhejiang, Peoples R China