Výsledky vyhledávání - Victor Wei Zhang
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Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature Autor Ping Yuan, Zuyong He, Lingyan Zheng, Wenjun Wang, Yu Li, Haijing Zhao, Victor Wei Zhang, Qingxue Zhang, Dongzi Yang
Vydáno 2017Artigo -
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Paracrine Wnt1 Drives Interstitial Fibrosis without Inflammation by Tubulointerstitial Cross-Talk Autor Omar H. Maarouf, Anusha Aravamudhan, Deepika Rangarajan, Tetsuro Kusaba, Victor Wei Zhang, Jeremy Welborn, Daniel Gauvin, Xiuyun Hou, Rafael Kramann, Benjamin D. Humphreys
Vydáno 2015Artigo -
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Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin Autor Jing Wang, Hong Cui, Ni‐Chung Lee, Wuh‐Liang Hwu, Yin‐Hsiu Chien, William J. Craigen, Lee‐Jun C. Wong, Victor Wei Zhang
Vydáno 2012Artigo -
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Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis Autor Hefan Miao, Jiapeng Zhou, Qi Yang, Fan Liang, Depeng Wang, Na Ma, Bodi Gao, Juan Du, Ge Lin, Kai Wang, Victor Wei Zhang
Vydáno 2018Artigo -
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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation Autor Melanie A. Jones, Shruti Bhide, Ephrem Chin, Bobby G. Ng, Devin Rhodenizer, Victor Wei Zhang, Jessica Sun, Alice Tanner, Hudson H. Freeze, Madhuri Hegde
Vydáno 2011Artigo -
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Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing Autor Lan Qin, Jing Wang, Tian Xia, Hui Yu, Cavatina K. Truong, John J. Mitchell, Klaas J. Wierenga, William J. Craigen, Victor Wei Zhang, Lee‐Jun C. Wong
Vydáno 2016Artigo -
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Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes Autor Qingwei Qi, Yulin Jiang, Xiya Zhou, Hua Meng, Na Hao, Jiazhen Chang, Junjie Bai, Chunli Wang, Mingming Wang, Jiangshan Guo, Yunshu Ouyang, Zhonghui Xu, Mengsu Xiao, Victor Wei Zhang, Juntao Liu
Vydáno 2020Artigo -
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A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2 Autor Jianli Li, Hongzheng Dai, Yanming Feng, Jia Tang, Stella Chen, Tian Xia, Elizabeth Gorman, Eric Schmitt, Terah A.A. Hansen, Jing Wang, Sharon E. Plon, Victor Wei Zhang, Lee‐Jun C. Wong
Vydáno 2015Artigo -
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Biallelic mutations in <i>CFAP65</i> lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations Autor Weili Wang, Chaofeng Tu, Hongchuan Nie, Lanlan Meng, Yong Li, Shi‐Min Yuan, Victor Wei Zhang, Juan Du, Junpu Wang, Fei Gong, Li-Qing Fan, Guangxiu Lu, Ge Lin, Yue‐Qiu Tan
Vydáno 2019Artigo -
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Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects Autor Sha Tang, Jing Wang, Victor Wei Zhang, Fangyuan Li, Megan Landsverk, Hong Cui, Cavatina K. Truong, Guoli Wang, Li Chieh Chen, Brett H. Graham, Fernando Scaglia, Eric Schmitt, William J. Craigen, Lee‐Jun C. Wong
Vydáno 2013Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Mutation
Computational biology
DNA sequencing
Pathology
Bioinformatics
Exome sequencing
Phenotype
Genome
Internal medicine
Pregnancy
Disease
Massive parallel sequencing
Cell biology
Copy-number variation
Genetic testing
Genotype
Infertility
Sanger sequencing
Allele
Biochemistry
Computer science
Exome
Immunology
Male infertility
Medical genetics
Missense mutation