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在“SpringerLink电子期刊”中，命中：159条，耗时：0.0159929 秒

在所有数据库中总计命中：1,405条

1. 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

2. MPD: multiplex primer design for next-generation targeted sequencing

作者： Thomas S. Wingo ; Alex Kotlar ; David J. Cutler

关键词：DNA ; sequencing ; Next ; generation sequencing ; Primer design ; Targeted resequencing

刊名：BMC Bioinformatics

出版年：2017

3. 3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets

作者： Jianjiong Gao ; Matthew T. Chang ; Hannah C. Johnsen ; Sizhi Paul Gao…

关键词：Cancer genomics ; Driver mutations ; Protein structures ; Precision medicine

刊名：Genome Medicine

出版年：2017

4. Molecular classification of tissue from a transformed non-Hogkin’s lymphoma case with unexpected long-time remission

作者： Julie Støve Bødker ; Marianne Tang Severinsen…

关键词：Transformed lymphoma ; Long ; time remission ; Molecular classification ; Rituximab palliation ; Drug resistance prediction

刊名：Experimental Hematology & Oncology

出版年：2017

5. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

作者： Wei Wei ; Michael J. Keogh ; Ian Wilson…

关键词：Mitochondrial ; Mutation ; Dementia ; Neurodegeneration ; Somatic

刊名：Acta Neuropathologica Communications

出版年：2017

6. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

作者： Justin A. Pater ; Tammy Benteau ; Anne Griffin ; Cindy Penney…

刊名：Human Genetics

出版年：2017

7. Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing

作者： Hyun Seok Choi ; Ah Reum Kim ; Shin Hye Kim…

关键词：EYA4 ; Hearing loss ; Targeted exome sequencing ; DFNA10

刊名：European Archives of Oto-Rhino-Laryngology

出版年：2016

8. Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat

作者： Minako Yoshihara ; Daisuke Saito ; Tetsuya Sato ; Osamu Ohara…

关键词：Target capture sequencing ; Exome ; Conserved non ; coding sequence ; Rat

刊名：BMC Genomics

出版年：2016

9. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

作者： Isabel Spier ; Martin Kerick ; Dmitriy Drichel ; Sukanya Horpaopan…

关键词：Familial colorectal cancer ; Adenomatous polyposis ; Candidate genes ; Exome sequencing ; Massive parallel sequencing ; Hereditary tumor syndromes

刊名：Familial Cancer

出版年：2016

10. Exome genotyping, linkage disequilibrium and population structure in loblolly pine (Pinus taeda L.)

作者： Mengmeng Lu ; Konstantin V. Krutovsky ; C. Dana Nelson ; Tomasz E. Koralewski…

关键词：Loblolly pine ; Exome sequence capture ; Target enrichment ; Genotyping by sequencing ; Linkage disequilibrium ; Population structure ; SNPs

刊名：BMC Genomics

出版年：2016

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