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在“Elsevier电子期刊”中，命中：9条，耗时：0.0129914 秒

在所有数据库中总计命中：32条

1.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

2.SNP-Seek II: A resource for allele mining and analysis of big genomic data in Oryza sativa

作者：Locedie Mansueto^a ; Roven Rommel Fuentes^a ; Dmytro Chebotarov^a ; Frances Nikki Borja^a ; Jeffrey Detras^a ; Juan Miguel Abriol-Santos^a ; Kevin Palis^a ; ^b ; Alexandre Poliakov^c ; ^d ; Inna Dubchak^c ; ^d ; Victor Solovyev^e ; Ruaraidh Sackville Hamilton^a ; Kenneth L. McNally^a ; Nickolai Alexandrov^a ; Ramil Mauleon^a ; ^{r.mauleon@irri.org}

关键词：3k RG ; 3000 Rice Genomes ; API ; Application Programming Interface ; DAO ; Data Access Object ; HDF5 ; Hierarchical Data Format 5 (file format) ; HDRA ; High Density Rice Array ; indel ; insertion or deletion in genomic region ; IRGCIS ; International Rice Genebank Collection Information System (http ; //www.irgcis.irri.org ; 81/grc/irgcishome.html) ; IRRI ; International Rice Research Institute ; RDBMS ; Relational Database Management System ; SNP ; Single Nucleotide Polymorphism

刊名：Current Plant Biology

出版年：2016

3.Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa

作者：Hassol Lim ; BS ; MD ; PhD^* ; Young-Mi Park ; MS^&dagger ; ; Jong-Keuk Lee ; PhD^&dagger ; ; Hyun Taek Lim ; MD ; PhD^&dagger ; ; ^&Dagger ; ; ^{htlim@amc.seoul.kr" class="auth_mail" title="E-mail the corresponding author}

刊名：Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

出版年：2016

4.A genome survey sequencing of the Java mouse deer (Tragulus javanicus) adds new aspects to the evolution of lineage specific retrotransposons in Ruminantia (Cetartiodactyla)

作者：S. Gallus^a ; V. Kumar^a ; M.F. Bertelsen^c ; A. Janke^a ; ^b ; M.A. Nilsson^a ; ^{maria.nilsson-janke@senckenberg.de" class="auth_mail" title="E-mail the corresponding author}

关键词：A (nucleotide) ; adenosine ; Ala ; alanine ; ALPINE ; alpaca SINE ; BDDF ; bovine dimer driven family ; BLAT ; blast like alignment tool ; BLAST ; basic local alignment search tool ; BovB ; bovine RTE element ; BWA ; Burrows&ndash ; Wheeler aligner ; C (nucleotide) ; Cytosine ; CHR SINE ; Cetacea ; Hippopotamidae and Ruminantia SINE ; DNA ; deoxyribonucleic acid ; et al ; et alii/et aliae/et alia ; ERV ; Endogenous Retrovirus ; Fig ; figure ; Glu ; glutamic acid ; Kb ; kilo bases ; LINE ; Long INterspersed Elements ; LTR ; long term

刊名：Gene

出版年：2015

5.A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing

作者：Gang Liu ; Xiaoming Wei ; Rui Chen ; Hanlin Zhou ; Xiaoyan Li ; Yan Sun ; Shuqi Xie ; Qian Zhu ; Ning Qu ; Guanghui Yang ; Yuxing Chu ; Haitao Wu ; Zhangzhang Lan ; Jinming Wang ; Yi Yang ; Xin Yi

关键词：A ; adenosine ; AA ; amino acid(s) ; ALP ; alkaline phosphatase ; ALT ; alanine transaminase ; ASS ; argininosuccinate synthetase 1 ; ASS1 ; gene encoding argininosuccinate synthase 1 ; AST ; aspartate aminotransferase ; bp ; base pair(s) ; BWA ; Burrows Wheeler Aligner ; C ; cytidine ; CTLN ; citrullinaemia ; CTLN1 ; type I citrullinaemia ; CTLN2 ; adult-onset type II citrullinaemia ; E ; glutamic acid ; FAH ; gene encoding fumarylacetoacetate hydrolase ; FTTDCD ; failure to thrive and dyslipidaemia caused by citrin deficien

刊名：Gene

出版年：10 January, 2014

6.Generation and characterization of the sea bass Dicentrarchus labrax brain and liver transcriptomes

作者：Elodie Magnanou^a ; ^b ; ; Christophe Klopp^c ; Celine Noirot^c ; Laurence Besseau^a ; ^b ; Jack Falcó ; n^a ; ^b

关键词：BBH ; Bidirectional Best Hit ; bp ; base pair ; BWA ; Burrows&ndash ; Wheeler Aligner ; CDK ; Cyclin Dependent Kinase ; CNRS ; Centre National de la Recherche Scientifique ; EMBOSS ; European Molecular Biology Open Software Suite ; ENCODE ; ENCyclopedia Of DNA Elements ; EST ; Expressed Sequence Tag ; FAO ; Food and Agriculture Organization of the United Nations ; FL ; fork length ; GDR ; Groupement De Recherche ; GnRH ; Gonadotropin-Releasing Hormone ; GSI ; Gonado-Somatic Index ; GO ; Gene Ontology ; IFREMER ; Institut Fran

刊名：Gene

出版年：1 July 2014

7.Comparative analysis of genes encoding key steroid core oxidation enzymes in fast-growing Mycobacterium spp. strains

作者：E.Yu. Bragin ; V.Yu. Shtratnikova ; D.V. Dovbnya ; M.I. Schelkunov ; Yu.A. Pekov ; S.G. Malakho ; O.V. Egorova ; T.V. Ivashina ; S.L. Sokolov ; V.V. Ashapkin ; M.V. Donova

关键词：AD ; androst-4-ene-3 ; 17-dione ; ADD ; androsta-1 ; 4-diene-3 ; 17-dione ; 9-OH-AD ; 9伪-hydroxy androst-4-ene-3 ; 17-dione ; ORFs ; open reading frames ; SNP ; single nucleotide substitution ; CTAB ; cetyl trimethyl ammonium bromide ; bp ; base pair ; BWA ; Broadband-Wheeler Aligner ; FAD ; flavin adenine dinucleotide ; PWM ; position weight matrix ; ChoX ; cholesterol oxidase ; 螖1 KSTD ; 3-ketosteroid-螖1-dehydrogenase ; KSH ; 3-ketosteroid-9伪-hydroxylase ; KshA ; subunit A of 3-ketosteroid-9伪-hydroxylase ; KshB ; subunit B o

刊名：The Journal of Steroid Biochemistry and Molecular Biology

出版年：November, 2013

8.A new mutational mechanism for hypertrophic cardiomyopathy

作者：Laura Pezzoli ; Maria Elena Sana ; Paolo Ferrazzi ; Maria Iascone

关键词：1KGP ; 1000 Genomes Project ; ACTC1 ; cardiac actin ; Bp ; basepair(s) ; BWA ; Burrows&ndash ; Wheeler aligner ; ESP ; exome sequencing project ; Fs ; frameshift ; GAMES ; genomic analysis of mutations. extracted by sequencing ; Gln ; glutamine ; GRCh37/hg19 ; genome refere

刊名：Gene

出版年：2012

9.A comparison of treatment impacts between Invisalign aligner and fixed appliance therapy during the first week of treatment

作者：Kevin B. Miller ; Susan P. McGorray ; R ; y Womack ; Juan Carlos Quintero ; Mark Perelmuter ; Jerome Gibson ; Teresa A. Dolan ; Timothy T. Wheeler

关键词：Cesarean section ; history of medicine

刊名：American Journal of Orthodontics and Dentofacial Orthopedics

出版年：2007

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