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Elsevier电子期刊(15)

在“Elsevier电子期刊”中，命中：15条，耗时：0.0319818 秒

在所有数据库中总计命中：26条

1.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

2.A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

作者：Amina Bakhchane^a ; Hicham Charoute^a ; Halima Nahili^a ; Rachida Roky^b ; Hassan Rouba^a ; Majida Charif^a ; ^c ; ^d ; Guy Lenaers^c ; ^d ; ¹ ; Abdelhamid Barakat^a ; ¹ ; ^{hamid.barakat@pasteur.ma" class="auth_mail" title="E-mail the corresponding author}

关键词：ARNSHL ; autosomal recessive non-syndromic hearing loss ; DFNA ; deafness ; autosomal dominant 36 ; DFNB ; deafness ; autosomal recessive ; ESP ; Exome Sequencing Project ; EVS ; Exome Variant Server ; GJB2 ; gap junction protein ; beta 2 ; 26 ; kDa ; LRTOMT ; leucine rich transmembrane and O-methyltransferase domain containing ; MT-RNR1 ; Ribosomal RNA ; Mitochondrial ; 12S ; PolyPhen ; Polymorphism Phenotyping ; SIFT ; Sorting Intolerant From Tolerant ; TMC1 ; transmembrane channel-like 1 ; WES ; Whole-exome sequencing

刊名：Gene

出版年：2015

3.WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

作者：A.C. Gon莽alves ; T.D. Matos ; H.R. Sim玫es-Teixeira ; M. Pimenta Machado ; M. Sim茫o ; 脫.P. Dias ; M. Andrea ; G. Fialho ; H. Caria

关键词：Asp ; Aspartic acid ; Asn ; Asparagine ; BLAST ; Basic Local Alignment Search Tool ; ER ; Endoplasmic reticulum ; Glu ; Glutamic acid ; HGMD ; Human Gene Mutation Database ; HL ; Hearing loss ; LFSNHL ; Low-frequency sensorineural hearing loss

刊名：Gene

出版年：1 April, 2014

4.Computational identification and analysis of functional polymorphisms involved in the activation and detoxification genes implicated in endometriosis

作者：Roshni Panda ; Suresh P.K. ; ^{p.k.suresh@vit.ac.in" class="auth_mail} ; ^{indian.ethos@gmail.com" class="auth_mail}

关键词：SNP ; single nucleotide polymorphism ; nsSNP ; non-synonymous SNP ; EDC ; endocrine-disrupting chemical ; PCDDs ; polychlorinated dibenzo-p-dioxins ; PCDFs ; polychlorinated dibenzofurans ; PCBs ; polychlorinated biphenyls ; PE ; phthalate esters ; BRCA1 ; breast cancer type 1 susceptibility protein ; BRCA2 ; breast cancer type 2 susceptibility protein ; AHR ; aryl hydrocarbon receptor ; AHRR ; aryl-hydrocarbon receptor repressor ; ARNT ; aryl hydrocarbon receptor nuclear translocator ; CYP1A1 ; cytochrome P450 ; family

刊名：Gene

出版年：1 June, 2014

5.Novel mutation predicted to disrupt SGOL1 protein function

作者：Rohit Gupta ; ^{im.rohit@hotmail.com} ; Mrinal Mishra ^{mrinalmishra2008@vit.ac.in} ; Prateek Tandon ^{erprateek.vit@gmail.com} ; Raunak Hisaria ^{hisariaraunak@gmail.com}

关键词：nsSNP ; non-synonymous single nucleotide polymorphism ; dbSNP ; database of SNP ; Polyphen server ; polymorphism phenotype server ; PhD-SNP ; predictor of human deleterious single nucleotide ; fs ; femtosecond ; ps ; picosecond

刊名：Egyptian Journal of Medical Human Genetics

出版年：2013

6.Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes

作者：Tariq Ahmad Masoodi^b ; ¹ ; ^{tahamasoodi@gmail.com} ; Sulaiman A. Al Shammari^a ; May N. Al-Muammar^a ; Adel A. Alhamdan^a ; Venkateswar Rao Talluri^b

关键词：AD ; Alzheimer disease ; nsSNP ; non-synonymous single nucleotide polymorphism ; LOAD ; late-onset Alzheimer disease ; GWAS ; genome-wide association studies ; CLU ; encoding clusterin ; PICALM ; encoding phosphatidylinositol binding clathrin assembly protein ; CR1

刊名：Gene

出版年：2013

7.In Silico survey of functional coding variants in human AEG-1 gene

作者：Malihe Naderi ; Roghaye Gharaei ; Ehsan Soleymani-Nejadian ; Esmaeil Samadian

关键词：Non-synonymous SNP ; Functional impacts ; AEG-1

刊名：Egyptian Journal of Medical Human Genetics

出版年：2013

8.In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene

作者：Muhammad Ramzan Manwar Hussain ; Noor Ahmad Shaik ; Jumana Yousuf Al-Aama ; Hani Z. Asfour ; Fatima Subhani Khan ; Tariq Ahmad Masoodi ; Muhammad Akhtar Khan ; Nazia Sultana Shaik

关键词：SIFT ; Sorting Intolerant from Tolerant ; Polyphen ; Phenotype Polymorphism ; CFC ; Cardio-Facio-Cutaneous ; SNP ; Single Nucleotide Polymorphism ; nsSNP ; Nonsynonymous Polymorphism ; OMIM ; Online Mendelian Inheritance in Man ; ANOLEA ; Atomic Non-Local Environment

刊名：Gene

出版年：2012

9.Functional genomics based prioritization of potential nsSNPs in EPHX1, GSTT1, GSTM1 and GSTP1 genes for breast cancer susceptibility studies

作者：Tariq Ahmad Masoodi^a ; ^b ; Venkateswar Rao Talluri^a ; Noor Ahmad Shaik^b ; ^c ; ^{noorahmadh@gmail.com} ; Jumana Yousuf Al-Aama^c ; Qurratulain Hasan^b

关键词：Computational analysis ; Single nucleotide polymorphism ; Predisposition genes ; Breast cancer

刊名：Genomics

出版年：2012

10.Computational and Structural Investigation of Deleterious Functional SNPs in Breast Cancer BRCA2 Gene

作者：R Rajasekaran ; C George Priya Doss ; C Sud ; iradoss ; K Ramanathan ; Purohit Rituraj ; Sethumadhavan Rao

关键词：BRCA2 gene ; breast cancer ; SIFT ; PolyPhen ; UTRscan ; modeled structure

刊名：Chinese Journal of Biotechnology

出版年：2008

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文摘(12)

按出版年细分(15)

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