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在“Elsevier电子期刊”中，命中：137条，耗时：小于0.01 秒

在所有数据库中总计命中：822条

1.Haptoglobin polymorphism in relation to coronary plaque characteristics on radiofrequency intravascular ultrasound and near-infrared spectroscopy in patients with coronary artery disease

作者：Nermina Buljubasic^a ; Rohit M. Oemrawsingh^a ; Mirjam B. Smeets^b ; Jin M. Cheng^a ; Evelyn Regar^a ; Robert-Jan M. van Geuns^a ; Patrick W.J.C. Serruys^a ; Eric Boersma^a ; K. Martijn Akkerhuis^a ; Isabella Kardys^a ; ¹ ; ^{i.kardys@erasmusmc.nl" class="auth_mail" title="E-mail the corresponding author} ; Fatih Arslan^b ; ¹

关键词：Atherosclerosis ; Coronary artery disease ; Haptoglobin ; Intravascular ultrasonography ; Near-infrared spectroscopy ; Polymorphism

刊名：International Journal of Cardiology

出版年：2016

2.The genomics of prematurity in an era of more precise clinical phenotyping: A review

作者：Tracy A. Manuck^a ; ^b ; ^{tmanuck@med.unc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Infant ; Premature ; Premature birth ; Phenotype ; Genetic predisposition ; Polymorphism

刊名：Seminars in Fetal and Neonatal Medicine

出版年：2016

3.A novel mutation of GATA4 (K300T) associated with familial atrial septal defect

作者：Jia Chen^b ; ¹ ; ^{chenjia@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Bingyang Qi^a ; ¹ ; ^{qiby14@mails.jlu.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Juan Zhao^b ; ^{zhaojuan@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Wei Liu^b ; ^{liuwei_nv@126.com" class="auth_mail" title="E-mail the corresponding author} ; Ranhui Duan^b ; ^{duanranhui@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author} ; Mingqiu Zhang^a ; ^{zhangmingqiu62@126.com" class="auth_mail" title="E-mail the corresponding author}

关键词：CHD ; congenital heart diseases ; ToF ; tetralogy of Fallot ; ASD ; atrial septal defect ; VSD ; ventricular septal defect ; AVSD ; atrioventricular septal defect ; DCM ; dilated cardiomyopathy ; HGMD ; human gene mutation database ; dbSNP ; database of Single Nucleotide Polymorphisms ; EVSD ; Exome Variant Server Database ; NLS ; nuclear localization signal ; SNP ; Single nucleotide polymorphism ; GATK ; Genome Analysis Toolkit ; PolyPhen-2 ; Polymorphism Phenotyping v2 ; SIFT ; Sorting Intolerant From Tolerant ; TAD ; tra

刊名：Gene

出版年：2016

4.Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson’s disease patients

作者：Lamei Yuan^a ; ^b ; Zhi Song^b ; Xiong Deng^a ; Wei Xiong^c ; Zhijian Yang^a ; Hao Deng^a ; ^b ; ^{hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author}

关键词：PD ; Parkinson&rsquo ; s disease ; MAPT ; the microtubule-associated protein tau gene ; GBA ; the glucocerebrosidase gene ; SMPD1 ; the sphingomyelin phosphodiesterase 1 ; acid lysosomal gene ; MTHFR ; the methylenetetrahydrofolate reductase gene ; dbSNP ; database of single nucleotide polymorphisms ; SIFT ; Sorting Intolerant from Tolerant ; PolyPhen-2 ; Polymorphism Phenotyping version 2 ; MALDI-TOF MS ; Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry ; PCR ; polymerase chain reaction

刊名：Neuroscience Letters

出版年：2016

5.Heat Shock 70 Protein Genes and Genetic Susceptibility to Apical Periodontitis

作者：Kanwal Maheshwari ; BDS^&lowast ; ; Renato M. Silva ; DDS ; MS ; PhD^&lowast ; ; ^&dagger ; ; Leticia Guajardo-Morales ; DDS^&dagger ; ; Gustavo P. Garlet ; DDS ; MS ; PhD^&Dagger ; ; Alexandre R. Vieira ; DDS ; MS ; PhD^§ ; ; ^|| ; Ariadne Letra ; DDS ; MS ; PhD^&lowast ; ; ^&dagger ; ; ^{Ariadne.M.Letra@uth.tmc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Apical periodontitis ; heat shock proteins ; polymorphism

刊名：Journal of Endodontics

出版年：2016

6.Genetic determinants of fibro-osseous lesions in aged inbred mice

关键词：AB ; Annerose Berndt ; Abcc6 ; mouse ATP-binding cassette ; sub-family C (CFTR/MRP) ; member 6 gene ; CnSNPs ; nonconsensus single nucleotide polymorphisms ; CDK4 ; human cyclin-dependent kinase 4 protein ; Ephb4 ; mouse ephrin receptor B4 gene ; FGF23 ; human fibroblast growth factor 23 gene ; Gigyf1 ; mouse GRB10 interacting GYF protein 1 gene ; GNAS ; human guanine nucleotide binding protein ; alpha stimulating activity gene ; IMPC ; International Mouse Phenotyping Project ; JMC ; Justin M. Cates ; JPS ; John P. Sun

刊名：Experimental and Molecular Pathology

出版年：2016

7.Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

作者：Irene Bottillo^a ; ^{i.bottillo@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Daniela D'Angelantonio^a ; Viviana Caputo^b ; Alessandro Paiardini^c ; Martina Lipari^a ; Carmelilia De Bernardo^a ; Diana Giannarelli^d ; Antonio Pizzuti^b ; Silvia Majore^a ; Marco Castori^a ; Elisabetta Zachara^e ; Federica Re^e ; Paola Grammatico^a

关键词：HCM ; hypertrophic cardiomyopathy ; DCM ; dilatative cardiomyopathy ; RCM ; restrictive cardiomyopathy ; ARVC ; arrhythmogenic right ventricular cardiomyopathy ; NGS ; next generation sequencing ; NsSNV ; non-synonymous single nucleotide variant ; ECG ; electrocardiography ; CMRI ; cardiac magnetic resonance ; SCD ; sudden cardiac death ; NSVT ; non-sustained ventricular tachycardia ; SIFT ; sorting intolerant from tolerant ; PolyPhen-2 ; polymorphism phenotyping v2 ; GERP ; genomic evolutionary rate profiling ; RMSD ; ro

刊名：Gene

出版年：2016

8.Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease

作者：Burhan M. Edrees^a ; ^g ; ¹ ; Mohammad Athar^a ; ^b ; ¹ ; ^{athar80@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Faisal A. Al-Allaf^a ; ^b ; ^c ; ¹ ; ^{faallaf@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author} ; Mohiuddin M. Taher^a ; ^b ; Wajahatullah Khan^d ; Abdellatif Bouazzaoui^a ; ^b ; Naffaa Al-Harbi^e ; Ramzia Safar^f ; Howaida Al-Edressi^f ; Khawala Alansary^g ; Abulkareem Anazi^g ; Naji Altayeb^g ; Muawia A. Ahmed^h ; Zainularifeen Abduljaleel^a ; ^b ; ¹ ; ^{zainulbio@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{zaabduljaleel@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author}

关键词：ARPKD ; autosomal recessive polycystic kidney disease ; ADPKD ; Autosomal Dominant Polycystic Kidney Disease ; nsSNPs ; non-synonymous SNPs ; SIFT ; Sorting Intolerant From Tolerant ; PolyPhen2 ; Polymorphism Phenotyping ; NGS ; Next generation sequencing ; ISP ; Ion Sphere Particles ; BAM ; binary alignment mapping ; hg19 ; reference genome ; BWA ; Burrows-Wheeler Aligner ; SAM ; sequence alignment mapping ; PCR ; polymerase chain reaction ; SOAP ; Short Oligonucleotide Analysis Package ; GO ; Gene-Ontology

刊名：Gene

出版年：2016

9.Severe Vincristine-induced Neuropathic Pain in a CYP3A5 Nonexpressor With Reduced CYP3A4/5 Activity: Case Study

作者：Marija Bosilkovska ; PharmD¹ ; Kuntheavy Ing Lorenzini ; PharmD ; PhD¹ ; Chakradhara Rao S. Uppugunduri ; PharmD ; PhD² ; Jules Desmeules ; MD¹ ; Youssef Daali ; PharmD ; PhD¹ ; Monica Escher ; MD ; PD¹ ; ^{Monica.Escher@hcuge.ch" class="auth_mail" title="E-mail the corresponding author}

关键词：adverse drug event ; CEP72 ; CYP ; vincristine ; neuropathy ; P-glycoprotein ; pharmacogenetics ; phenotyping

刊名：Clinical Therapeutics

出版年：2016

10.Is it possible to use Forensic DNA phenotyping in Brazilian population?

作者：Cintia Fridman ; ^{cfridman@usp.br" class="auth_mail" title="E-mail the corresponding author} ; Mari Maki Sí ; ria Godoy Cardena ; Felí ; cia de Araú ; jo Lima ; Fernanda de Toledo Gonç ; alves

关键词：SLC45A2 ; Pigmentation ; Polymorphisms ; Forensic DNA phenotyping ; Brazilian Population

刊名：Forensic Science International: Genetics Supplement Series

出版年：2015

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