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A Novel Mutation in NPHS2 Gene Identified in a Chinese Pedigree with Autosomal Recessive Steroid-Res
[会议论文] 作者：Hua Sun,Wei Zhou,Jian Wang,Lei Yin,Qihua Fu, 来源：第五届亚洲儿科研究大会 年份：2009
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A Novel Mutation in NPHS2 Gene Identified in a Chinese Pedigree with Autosomal Recessive Steroid-Res
[会议论文] 作者：Hua Sun,Wei Zhou,Jian Wang,Lei Yin,Qihua Fu, 来源：第五届亚洲儿科研究大会 年份：2009
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A Novel Jagged1 (JAG1) Mutations in Patients with Alagille Syndrome
[会议论文] 作者：Ying Wang,Yongguo Yu,Qihua Fu,Jian Wang,Jing Wang, 来源：第五届亚洲儿科研究大会 年份：2009
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Identification of four novel mutations in four suspected NF1 patients manifested with café-au-lait m
[会议论文] 作者：Ruen Yao,Yongguo Yu,Yongnian Shen,Xiaodong Huang,Qihua Fu, 来源：中华医学会第十八次全国儿科学术会议 年份：2013
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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism:identification and in vitro
[会议论文] 作者：Tingting Yu,Jian Wang,Yongguo Yu,Xiaodong Huang,Yiping Shen,Qihua Fu, 来源：中华医学会第二十次全国儿科学术大会 年份：2015
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CYP21A2 Gene Mutation Analysis in 11 Patients with 21-Hydroxylase Deficiency in chinese
[会议论文] 作者：Yongguo Yu,Xiaodong Huang,Yongnian Shen,Qihua Fu,Peirong Yang,Jian Wang,Jing Wang, 来源：第五届亚洲儿科研究大会 年份：2009
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Novel TSC1 and TSC2 gene mutations in 11 Chinese patients with tuberous sclerosis complex
[会议论文] 作者：Tingting Yu,Yingzhong He,Niu Li,Zhiping Wang,Qihua Fu,Hongzhen Yu,Jian Wang, 来源：第十四次全国医学遗传学学术会议 年份：2015
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by hamartomas in multiple organ systems.It is caused by inactivating mutations in either the TSC1 or TSC2 gene....
A novel missense mutation of TNNI2 in a Chinese family cause Distal arthrogrypose type 1
[会议论文] 作者：Bo Wang,Zhaojing Zheng,Xiaoqing Zhang,Haiou Yang,Qihua Fu,Zhigang Wang,Haiqing Cai, 来源：第十届全国检验与临床学术会议暨2015年中国医师协会检验医师年会 年份：2015
The distal arthrogryposis(DA)syndromes are a group of disorders featured by congenital contractures of limbs.According to phenotypical characteristics,DA syndromes have been clinically classified into...
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydact
[会议论文] 作者：Bo Wang,Niu Li,Juan Geng,Zhigang Wang,Qihua Fu,Jian Wang,Yunlan Xu, 来源：第十届全国检验与临床学术会议暨2015年中国医师协会检验医师年会 年份：2015
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Novel Mutations in the CYP11B2 Gene Causing Aldosterone Synthase Deficiency
[会议论文] 作者：Niu Li,Tingting Yu,Juan Li,Yu Ding,Yongnian Shen,Xiaodong Huang,Qihua Fu,Jian Wang,Yiping Shen, 来源：第十四次全国医学遗传学学术会议 年份：2015
　　Background: AIdosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease.Mutations in the CYP11B2 gene are responsible for the occu...
Novel Mutations in the CYP11B2 Gene Causing Aldosterone Synthase Deficiency
[会议论文] 作者：Niu Li,Juan Li,Yu Ding,Tingting Yu,Yongnian Shen,Qihua Fu,Yiping Shen,Xiaodong Huang,Jian Wang, 来源：第十四次全国医学遗传学学术会议 年份：2015
Background: AIdosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease.Mutations in the CYP11B2 gene are responsible for the occurrence of ASD....
Novel Mutations in the CYP11B2 Gene Causing Aldosterone Synthase Deficiency
[会议论文] 作者：Niu Li,Juan Li,Yu Ding,Tingting Yu,Yongnian Shen,Xiumin Wang,Qihua Fu,Xiaodong Huang,Jian Wang, 来源：中华医学会第二十次全国儿科学术大会 年份：2015
...
Exome sequencing identifies causal variants in genetic skeletal disorders
[会议论文] 作者：Zheng,Chunxin Wu,Juan Geng,Yunlan Xu,Xiaoqing Zhang,Jian Wang,Yuchan Li,Hai-ou Yang,Zhigang Wang,Qihua Fu, 来源：中华医学会第八次全国中青年检验医学学术会议 年份：2014
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Causal variants screened by whole exome sequencing in a patient with maternal uniparental disomy of
[会议论文] 作者：Niu Li,Yu Ding,Tingting Yu,Juan Li,Yongnian Shen,Xiumin Wang,Qihua Fu,Yiping Shen,Xiaodong Huang,Jian, 来源：中华医学会第二十次全国儿科学术大会 年份：2015
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Whole Exome Sequencing for Molecular Diagnosis of Chinese Patients with Rare Genetic Disorders
[会议论文] 作者：Jian Wang,Lei Yin,Xiaodong Huang,Juan Li,Xiumin Wang,Yunfang Zhou,Yu Ding,Niu Li,Qihua Fu,Yiping Shen, 来源：中华医学会第二十次全国儿科学术大会 年份：2015
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Whole Exome Sequencing for Molecular Diagnosis of Chinese Patients with Rare Genetic Disorders
[会议论文] 作者：Zhigang Wang,Lei Yin,Xiaodong Huang,Tingting Yu,Ru-en Yao,Juan Geng,Niu Li,Yanrong Qing,Xike Wang,Qihua Fu, 来源：第二次全国中西医结合检验医学学术会议 年份：2015
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