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在“SpringerLink电子期刊”中，命中：937条，耗时：小于0.01 秒

在所有数据库中总计命中：2,801条

1. Exome-chip association analysis reveals an Asian-specific missense variant in PAX4 associated with type 2 diabetes in Chinese individuals

作者： Chloe Y. Y. Cheung ; Clara S. Tang ; Aimin Xu ; Chi-Ho Lee ; Ka-Wing Au ; Lin Xu…

关键词：Asian ; specific ; Exome ; chip association analysis ; PAX4 ; Type 2 diabetes

刊名：Diabetologia

出版年：2017

2. Exome QTL-seq maps monogenic locus and QTLs in barley

作者： Hiroshi Hisano ; Kazuki Sakamoto ; Hiroki Takagi ; Ryohei Terauchi…

关键词：Exome sequencing ; Hordeum vulgare ; Kernel color ; Mapping ; Net blotch ; QTL ; seq

刊名：BMC Genomics

出版年：2017

3. Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

作者： Karin R. Engelhardt ; Yaobo Xu ; Angela Grainger…

关键词：IL7R ; copy number variation ; compound heterozygous ; SCID ; whole exome sequencing

刊名：Journal of Clinical Immunology

出版年：2017

4. Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

作者： Iris E. Jansen ; Hui Ye ; Sasja Heetveld ; Marie C. Lechler ; Helen Michels…

关键词：Parkinson’s disease ; Genomics ; Whole ; exome sequencing ; Loss ; of ; function ; Rare variants ; Functional screening ; Mitochondria ; Parkinα ; synuclein ; Animal model

刊名：Genome Biology

出版年：2017

5. Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers

作者： Ariane L. Hofmann ; Jonas Behr ; Jochen Singer ; Jack Kuipers…

关键词：SNV ; Variant calling ; Cancer genomics ; Exome sequencing ; Variant caller integration

刊名：BMC Bioinformatics

出版年：2017

6. Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia

作者： E. Mihailov ; T. Nikopensius ; A. Reigo ; C. Nikkolo ; M. Kals ; K. Aruaas ; L. Milani…

关键词：Inguinal hernia ; Genetics ; Titin ; Whole ; exome sequencing

刊名：Hernia

出版年：2017

7. Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family

作者： Mei Ren ; Xin Guang Yang ; Xiao Jie Dang…

关键词：Congenital cataract ; Autosomal dominant ; GJA8 ; Exome ; sequencing

刊名：Graefe's Archive for Clinical and Experimental Ophthalmology

出版年：2017

8. Mutation Detection of Fibroblast Growth Factor Receptor 3 for Infiltrative Hepatocellular Carcinoma by Whole-Exome Sequencing

作者： Xiaopeng Yan ; Cong Shao ; Chuang Chen ; Jun Chen ; Shen Gu…

关键词：Biomarker ; FGFR3 ; Infiltrative hepatocellular carcinoma ; Mutation signatures ; Whole ; exome sequencing

刊名：Digestive Diseases and Sciences

出版年：2017

9. Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

作者： Won Il Heo ; Kui Young Park ; Taewon Jin ; Mi-Kyung Lee ; MinJeong Kim…

关键词：COL6A6 ; Atopic dermatitis ; Sanger sequencing ; Whole ; exome sequencing

刊名：BMC Medical Genetics

出版年：2017

10. Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies

作者： Leah Zhrebker ; Irene Cherni ; Lara M. Gross ; Margaret M. Hinshelwood…

关键词：Cardiac angiosarcoma ; Whole exome sequencing ; Activating gene mutation ; Targeted therapies

刊名：BMC Cancer

出版年：2017

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