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Next-generation sequencing based molecular testing is an equalizer for diagnostic service of rare ge
[期刊论文] 作者：Yiping Shen,
来源：黑龙江科技学院学报 年份：2018
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7...
[会议论文] 作者：Yiping Shen,
来源：2014上海儿科内分泌遗传代谢高峰论坛 年份：2014
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Genetic counseling for patients with recurrent genomic imbalances/disorders and endocrinology issues
[会议论文] 作者：Yiping Shen,
来源：2014上海儿科内分泌遗传代谢高峰论坛 年份：2014
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Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection
[期刊论文] 作者：Yiping Shen,Bai-Lin Wu,
来源：黑龙江科技学院学报 年份：2009
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7...
Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medici
[期刊论文] 作者：Yiping Shen,Xiaoxia Qiu,Baohen,
来源：黑龙江科技学院学报 年份：2018
为探究吕家坨井田地质构造格局,根据钻孔勘探资料,采用分形理论和趋势面分析方法,研究了井田7...
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,
来源：第十四次全国医学遗传学学术会议 年份：2015
DAX1 is an orphan nuclear receptor that plays a key role in the development and function of the adrenal and reproductive axes.Mutations in the gene encoding DAX1 (NROB1) result in X-linked adrenal hyp...
Novel haploinsufficient genes and genomic regions associated with short stature revealed by genome-w
[会议论文] 作者：Yongguo Yu,Yiping Shen,Bai-lin Wu,Joe Hirschhorn,Andrew Dauber,
来源：中华医学会第十八次全国儿科学术会议 年份：2013
...
[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
...
[会议论文] 作者：Niu Li,Yu Ding,Juan Li,Yongnian Shen,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: Uniparental disomy (UPD) is to describe the abnormal situation that both copies of one chromosome pair are inherited from only one parent.UPDs lead to clinical abnormalities through affect...
CNVbase:Batch identification of novel and rare copy number variations based on multi-ethnic populati
[期刊论文] 作者：Cheng Zhang,Jianqi Lu,Haiyi Lou,Renqian Du,Shuhua Xu,Yiping Shen,Feng Zhang,Li Jin,,
来源：Journal of Genetics and Genomics 年份：2017
Human genetic variants have long been known to play an important role in both Mendelian disorders and common diseases.Notably,pathogenic variants are not limite...
Effect of kidney-reinforcing, blood-activating and stasis-removing recipes on adhesion molecule expr
[期刊论文] 作者：Baodong Ye,Dan Chen,Dijiong Wu,Xiangping Wu,Xiang Zhang,Yuhong Zhou,Yiping Shen,Keding Shao,Qinhong Yu,
来源：中医杂志（英文版） 年份：2012
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[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...
[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....
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short invert
[会议论文] 作者：Xiaoli Chen,Yiping Shen,Feng Zhang,Colby Chiang,Vamsee Pillalamarri,Ian Blumenthal,Michael Talkowski,,
来源：中国遗传学会第九次全国会员代表大会暨学术研讨会 年份：2013
NRXN1 microdeletions occur at relatively high frequency and confer increased risk for neurodevelopmental and neurobehavioral abnormalities.The mechanism that makes NRXN1 a deletion hotspot is unknown....
Exome sequencing identifies de-novo DYNC1H1 mutations associated with distal spinal muscular atrophy
[会议论文] 作者：Chen Yulin,Xu Yufei,Li Guoqiang,Li Niu,Yu Tingting,Yao Ru-en,Wang Xiumin,Yiping Shen,Wang Jian,
来源：中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份：2016
...
[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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[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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[会议论文] 作者：Wang,Lei Yin,Xiaodong Huang,Tingting Yu,Ru-en Yao,Juan Geng,Niu Li,Yanrong Qing,Xike Wang,Qihua Fu,Yiping Shen,
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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[会议论文] 作者：Yihua Bao,Ting Zhang,Huizhi Zhao,Hua Xie,Jin Guo,Jianliang Shen,Bo Niu,James F Gusella,Bai-Lin Wu,Yiping Shen,
来源：The Global Conference of Chinese Geneticists(2012全球华人遗传学大会) 年份：2012
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[会议论文] 作者：Xiaoli Chen,Hong Shao,Yihua Bao,Jianliang Shen,Bo Niu,James F Gusella,Bai-Lin Wu,Ting Zhang,Yiping Shen,
来源：The Global Conference of Chinese Geneticists(2012全球华人遗传学大会) 年份：2012
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