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Wiley电子期刊(5)	NATURE电子期刊(5)	ACS电子期刊(8)
SpringerLink电子期刊(173)	Elsevier电子期刊(109)

在“Elsevier电子期刊”中，命中：109条，耗时：0.0239882 秒

在所有数据库中总计命中：300条

1.Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

作者：Christopher J. Klein ; MD^a ; ^{klein.christopher@mayo.edu} ; Tatiana M. Foroud ; PhD^b

关键词：ACMG ; American College of Medical Genetics and Genomics ; bp ; base pair ; CNV ; copy number variation ; HGMD ; Human Gene Mutation Database ; NGS ; next-generation sequencing ; OMIM ; Online Mendelian Inheritance in Man ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing

刊名：Mayo Clinic Proceedings

出版年：2017

2.Genomic and genetic studies of systemic sclerosis: A systematic review

作者：Paraskevi Chairta ; Paschalis Nicolaou ; Kyproula Christodoulou ; ^{roula@cing.ac.cy}

关键词：ACA ; anti-centromere antibody ; AID ; autoimmune disease ; ARA ; anti-RNA polymerase III antibody ; ATA ; anti-topoisomerase I antibody ; SSc ; systemic sclerosis ; dcSSc ; diffused cutaneous SSc ; lcSSc ; limited cutaneous SSc ; GWAS ; Genome Wide Association Study ; HLA ; human leukocyte antigen ; MHC ; major histocompatibility complex ; PAH ; pulmonary arterial hypertension ; RA ; rheumatoid arthritis ; SLE ; systemic lupus erythematosus ; VNTRs ; variable number tandem repeats

刊名：Human Immunology

出版年：2017

3.Intensification: A Resource for Amplifying Population-Genetic Signals with Protein Repeats

作者：Jieming Chen¹ ; ² ; ³ ; Bo Wang⁵ ; Lynne Regan¹ ; ² ; ³ ; ⁵ ; ^&dagger ; ; Mark Gerstein¹ ; ² ; ³ ; ⁴ ; ^&dagger ; ; ^{mark@gersteinlab.org}

关键词：RPD ; repeat protein domain ; MSA ; multiple sequence alignment ; PPI ; protein&ndash ; protein interaction ; TPR ; tetratricopeptide repeat ; ANK ; Ankyrin repeat ; ExAC ; Exome Aggregation Consortium ; SNV ; single nucleotide variant ; DAF ; derived allele frequency ; PDB ; Protein Data Bank ; HGMD ; Human Gene Mutation Database

刊名：Journal of Molecular Biology

出版年：2017

4.Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in the human Quinone Oxidoreductase 1 (NQO1)

作者：Hidam Bishworjit Singh ^{hidam_bishworjit@yahoo.com} ; Dristi Deka ^{dristideka628@gmail.com} ; Dhiramani Das ^{dhiramanidas@rocketmail.com} ; Debasish Borbora ; ^{Debasish.borbora@gauhati.ac.in}

关键词：SNP ; Single nucleotide polymorphisms ; nsSNPs ; Non-synonymous SNPs ; NQO1 ; NAD(P)H Quinone Oxidoreductase 1 ; SIFT ; Sorting Intolerant from Tolerant ; PolyPhen ; phenotype polymorphism ; ROVEAN ; Protein Variation Effect Analyzer ; PDB ; Protein Data Bank ; GDT ; global distance test ; uGDT ; un-normalized GDT ; RMSD ; root mean squared deviation ; QMEAN ; Qualitative Model Energy Analysis ; ProSA ; Protein Structure Analysis ; UCSF ; University of California ; San Francisco

刊名：Meta Gene

出版年：2017

5.Long non-coding RNA Databases in Cardiovascular Research

作者：Frank Rü ; hle¹ ; ^a ; Monika Stoll¹ ; ² ; ^b ; ^{mstoll@uni-muenster.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Database ; Non-coding ; lncRNA ; Gene regulation ; Cardiovascular disease ; ANRIL

刊名：Genomics, Proteomics Bioinformatics

出版年：2016

6.The South Green portal: a comprehensive resource for tropical and Mediterranean crop genomics

作者： South Green collaborators^a ; ^b^c^d^e^f^f

关键词：Crop databases ; Genomics ; Galaxy ; Next Generation Sequencing ; Pipeline ; Sequence variants ; Workflow

刊名：Current Plant Biology

出版年：2016

7.Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients

作者：Amy L. Masson^a ; ^b ; Bente A. Talseth-Palmer^a ; ^b ; Tiffany-Jane Evans^a ; ^b ; Patrick McElduff^c ; ^d ; Allan D. Spigelman^e ; ^f ; ^g ; Garry N. Hannan^h ; Rodney J. Scott^a ; ^b ; ⁱ ; ^{Rodney.Scott@newcastle.edu.au" class="auth_mail" title="E-mail the corresponding author}

关键词：ALL ; acute lymphoblastic leukaemia ; BH ; Bengamini and Hochberg ; CHAS ; Chromosome Analysis Suite ; CN ; copy number ; CNV ; copy number variation ; COSMIC ; Catalogue of Somatic Mutations in Cancer ; CRC ; colorectal cancer ; DGV ; Database of genomic variants ; DNA ; deoxyribose nucleic acid ; FAP ; familial adenomatous polyposis ; HMDD ; human microRNA disease database ; Kb ; kilobase ; KEGG ; Kyoto Encyclopaedia of Genes and Genomes ; lncRNA ; link RNA ; LOH ; loss of heterozygosity ; mapd ; median absolute pairwise di

刊名：Meta Gene

出版年：2016

8.High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families

关键词：ACRD ; autism chromosome rearrangement database ; AutDB ; autism database ; CNVs ; copy number variants ; DGVs ; database of genomic variants ; GABA ; gamma-aminobutyric acid ; qPCR ; quantitative real-time PCR ; SNPs ; single nucleotide polymorphisms

刊名：Neuroscience

出版年：2016

9.A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease

作者：Joon Seol Bae^a ; ¹ ; InSong Koh^b ; ¹ ; Hyun Sub Cheong^c ; Jeong-Meen Seo^d ; Dae-Yeon Kim^e ; Jung-Tak Oh^f ; Hyun-Young Kim^g ; Kyuwhan Jung^h ; Jae Hoon Sulⁱ ; ^j ; Woong-Yang Park^a ; Jeong-Hyun Kim^k ; ^{soykm@sogang.ac.kr" class="auth_mail" title="E-mail the corresponding author} ; Hyoung Doo Shin^k ; ^l ; ^{hdshin@sogang.ac.kr" class="auth_mail" title="E-mail the corresponding author}

关键词：HSCR ; Hirschsprung disease ; CNV ; copy number variation ; LOH ; loss of heterozygosity ; qPCR ; quantitative polymerase chain reaction ; S-HSCR ; short-segment Hirschsprung disease ; L-HSCR ; long-segment Hirschsprung disease ; TCA ; total colonic aganglionosis ; SNP ; single nucleotide polymorphism ; PCA ; principal component analysis ; GWAS ; genome-wide association study ; LRR ; log R ratio ; BAF ; B allele frequency ; FDR ; False Discovery Rate ; DGV ; Database of Genomic Variants ; CNVR ; CNV region ; CGH ; comparative

刊名：Translational Research

出版年：2016

10.A systematic review of genetic variants associated with metabolic syndrome in patients with schizophrenia

作者：Stefanie Malan-Mü ; ller^a ; ^b ; ^{smalan@sun.ac.za" class="auth_mail" title="E-mail the corresponding author} ; Sanja Kilian^a ; Leigh L. van den Heuvel^a ; Soraya Bardien^b ; Laila Asmal^a ; Louise Warnich^c ; Robin A. Emsley^a ; Sî ; an M.J. Hemmings^a ; ^b ; Soraya Seedat^a

关键词：Schizophrenia ; Metabolic syndrome ; Gene variants ; Genetic association ; Comorbidity ; Pleiotropy

刊名：Schizophrenia Research

出版年：2016

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