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Wiley电子期刊(6)	ProQuest学位论文(1)	Elsevier电子期刊(175)
SpringerLink电子期刊(125)	NATURE电子期刊(28)

在“Elsevier电子期刊”中，命中：175条，耗时：0.0989805 秒

在所有数据库中总计命中：335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.Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

作者：Tia L. Kauffman^a ; ^{tia.l.kauffman@kpchr.org} ; Benjamin S. Wilfond^b ; Gail P. Jarvik^c ; ^d ; Michael C. Leo^a ; Frances L. Lynch^a ; Jacob A. Reiss^a ; C. Sue Richards^e ; Carmit McMullen^a ; Deborah Nickerson^d ; Michael O. Dorschner^f ; Katrina A.B. Goddard^a

关键词：KPNW ; Kaiser Permanente Northwest ; CSER ; Clinical Sequencing Exploratory Research ; CF ; cystic fibrosis ; OMIM ; Online Mendelian Inheritance in Man ; GS ; genome sequencing ; OHSU ; Oregon Health & Science University ; PRO ; Patient-reported outcome

刊名：Contemporary Clinical Trials

出版年：2017

3.Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

作者：Nitin Chitranshi^a ; ^{nitinchitranshi@gmail.com} ; Yogita Dheer^a ; Roshana Vander Wall^a ; Veer Gupta^b ; Mojdeh Abbasi^a ; Stuart L. Graham^a ; ^c ; Vivek Gupta^a

关键词：SNP ; Single nuncleotide polymorphism ; nsSNP ; non-synonymous single nucleotide polymorphism ; Cav ; caveolin ; IGFBP-5 ; insulin-like growth factor binding protein-5 ; CKD ; chronic kidney diseases ; iNOS ; inducible nitric oxide synthase ; HIF-1α ; hypoxia inducible factor-1 alpha ; IFN-γ ; interferon-gamma ; IL-6 ; interleukin 6 ; H3K9me3 ; histone H3 lysine 9 trimethylation ; RGCs ; retinal ganglion cells ; OMIM ; Online Mendelian Inheritance in Man ; dbSNP ; database of single nucleotide polymorphism ; UNIPROT ; uni

刊名：Gene Reports

出版年：2017

4.Mutations of familial Mediterranean fever in Syrian patients and controls: Evidence for high carrier rate

作者：Rami A. Jarjour^a ; ^{ascientific@aec.org.sy} ; Rami Abou Jamra^b

关键词：FMF ; familial Mediterranean fever ; MEFV ; Mediterranean FeVer ; OMIM ; online Mendelian inheritance in man ; EDTA ; ethylenediaminetetraacetic acid ; SNPs ; single nucleotide polymorphisms

刊名：Gene Reports

出版年：2017

5.Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism

作者：Wai-Kwan Siu^a ; ^b ; Ching-Wan Lam^a ; ^{ching-wanlam@pathology.hku.hk" class="auth_mail" title="E-mail the corresponding author} ; Wei-Wei Gao^c ; Hei-Man Vincent Tang^c ; Dong-Yan Jin^c ; Chloe Miu Mak^b

关键词：ASD ; autism spectrum disorders ; bp ; base pair ; CGH ; comparative genomic hybridization ; DAPI ; 4&prime ; 6-diamidino-2-phenylindone ; GFP ; green fluorescent protein ; Mb ; megabase pair ; NeICD ; neogenin intracellular domain ; NLS ; nuclear localization signal ; LMB ; leptomycin B ; OMIM ; online mendelian inheritance in man ; PCR ; polymerase chain reaction ; RGMa ; repulsive guidance molecule A

刊名：Behavioural Brain Research

出版年：2016

6.High-resolution chromosome ideogram representation of recognized genes for bipolar disorder

作者：Lindsay N. Douglas¹ ; Austen B. McGuire¹ ; Ann M. Manzardo ; Merlin G. Butler ; ^{mbutler4@kumc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：BPD ; bipolar disorder ; BP-I ; Bipolar I Disorder ; BP-II ; Bipolar II Disorder ; BP-NOS ; Bipolar Disorder Not Otherwise Specified ; cAMP ; cyclic adenosine monophosphate ; DNA ; deoxyribonucleic acid ; DSM-5 ; Diagnostic and Statistical Manual for Mental Disorders ; fifth edition ; FDA ; Food and Drug Administration ; GWAS ; genome-wide association studies ; OMIM ; online Mendelian inheritance in man ; SNPs ; single nucleotide polymorphisms

刊名：Gene

出版年：2016

7.In silico analysis of nsSNPs in human methyl CpG binding protein 2

作者：Mansi Desai ; Jenabhai Chauhan ; ^{jenabhaichauhan@aribas.edu.in" class="auth_mail" title="E-mail the corresponding author} ; ^{jbc109@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：MECP2 ; methyl CpG binding protein 2 ; SNP ; single nucleotide polymorphism ; SIFT ; sorting intolerant from tolerant ; PolyPhen ; phenotype polymorphism ; nsSNP ; non synonymous single nucleotide polymorphism ; OMIM ; online Mendelian inheritance in man ; MUSTER ; multi-sources ThreadER ; NCBI ; National Center for Biological Information ; PANTHER ; protein analysis through evolutionary relationship ; SNPs&GO ; single nucleotide polymorphism database and gene ontology

刊名：Meta Gene

出版年：2016

8.Currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high-resolution chromosome ideograms

作者：Merlin G. Butler ; ^{mbutler4@kumc.edu" class="auth_mail" title="E-mail the corresponding author} ; Syed K. Rafi ; Austen McGuire ; Ann M. Manzardo

关键词：DNA ; deoxyribonucleic acid ; RNA ; ribonucleic acid ; PCOS ; polycystic ovarian syndrome ; GWAS ; genome-wide association studies ; OMIM ; Online Mendelian Inheritance in Man

刊名：Gene

出版年：2016

9.Alkaptonuria: An example of a “fundamental disease”—A rare disease with important lessons for more common disorders

作者：James A. Gallagher^a ; ^{jag1@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; ^{nick@sireau.net" class="auth_mail" title="E-mail the corresponding author} ; Jane P. Dillon^a ; ^{dillon@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Nicolas Sireau^b ; ^{nick@findacure.org.uk" class="auth_mail" title="E-mail the corresponding author} ; Oliver Timmis^c ; ^{oliver@akusociety.org" class="auth_mail" title="E-mail the corresponding author} ; Lakshminarayan R. Ranganath^a ; ^d ; ^{lrang@liv.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：AGE ; advanced glycation end products ; AKU ; alkaptonuria ; ECM ; extracellular matrix ; HDMPs ; high density mineralised protrusions ; HGD ; homogentisate 1 ; 2 dioxygenase ; HGA ; homogentisic acid ; OMIM ; online Mendelian inheritance in man ; OA ; osteoarthritis ; PG ; proteoglycan ; TEM ; transmission electron microscopy ; ssNMR ; solid state nuclear magnetic resonance

刊名：Seminars in Cell & Developmental Biology

出版年：2016

10.Genetic variants within telomere-associated genes, leukocyte telomere length and the risk of acute coronary syndrome in Czech women

作者：Dana Dlouha^a ; ^{dadl@ikem.cz" class="auth_mail" title="E-mail the corresponding author} ; Jan Pitha^a ; Jana Mesanyova^a ; Jolana Mrazkova^a ; Adela Fellnerova^a ; Vladimir Stanek^b ; Vera Lanska^c ; Jaroslav A. Hubacek^a

关键词：CVD ; cardiovascular diseases ; BMI ; Body Mass Index ; 3PMFs ; the Prague Pre- and Post-Menopausal Females study ; EDTA ; ethylenediaminetetraacetic acid ; PCR ; polymerase chain reaction ; SCG ; single-copy gene ; T/S ; telomere repeats/single-copy gene copy ratio ; LTL ; leukocyte telomere length ; ACS ; acute coronary syndrome ; T2DM ; type 2 diabetes mellitus ; SNPs ; single nucleotide polymorphisms ; OMIM ; Online Mendelian Inheritance in Man ; LDL ; low density lipoprotein ; HDL ; high density lipoprotein ; SD ; stan

刊名：Clinica Chimica Acta

出版年：2016

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