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Elsevier电子期刊(34)

在“Elsevier电子期刊”中，命中：34条，耗时：小于0.01 秒

在所有数据库中总计命中：34条

1.InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

作者：Quan Li¹ ; ⁴ ; Kai Wang¹ ; ² ; ³ ; ^{kw2701@cumc.columbia.edu}

关键词：InterVar ; variant annotation ; variant interpretation ; clinical interpretation ; ClinVar ; genetic diagnosis ; ACMG ; ANNOVAR

刊名：The American Journal of Human Genetics

出版年：2017

2.Therapeutic Targeting of MLL Degradation Pathways in MLL-Rearranged Leukemia

作者：Kaiwei Liang¹ ; ² ; Andrew G. Volk¹ ; ³ ; Jeffrey S. Haug² ; Stacy A. Marshall¹ ; Ashley R. Woodfin¹ ; Elizabeth T. Bartom¹ ; Joshua M. Gilmore² ; Laurence Florens² ; Michael P. Washburn² ; ⁴ ; Kelly D. Sullivan⁵ ; Joaquin M. Espinosa⁵ ; Joseph Cannova⁶ ; ⁷ ; Jiwang Zhang⁶ ; ⁷ ; Edwin R. Smith¹ ; John D. Crispino¹ ; ³ ; ⁸ ; Ali Shilatifard¹ ; ² ; ⁸ ; ⁹ ; ^{ash@northwestern.edu}

关键词：mixed-lineage leukemia ; MLL ; wild-type MLL ; MLL chimera ; UBE2O ; interleukin-1 ; IRAK4 ; IRAK1 ; super elongation complex ; SEC

刊名：Cell

出版年：2017

3.A novel FN1 variant associated with familial hematuria: TBMN?

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

关键词：TBMN ; thin basement membrane nephropathy ; BFH ; benign familial hematuria ; GBM ; glomerular basement membrane ; AS ; Alport syndrome ; COL4A3 ; the collagen type IV alpha-3 gene ; COL4A4 ; the collagen type IV alpha-4 gene ; COL4A5 ; the collagen type IV alpha-5 gene ; ESRD ; end-stage renal disease ; FN1 ; the fibronectin 1 gene ; gDNA ; genomic DNA ; SNPs ; single nucleotide polymorphisms ; indels ; insertions&ndash ; deletions ; ANNOVAR ; Annotate Variation ; ESP ; exome sequencing project ; SIFT ; Sorting Intolerant fr

刊名：Clinical Biochemistry

出版年：2016

4.Palatal growth in complete unilateral cleft lip and palate patients following neonatal cheiloplasty: Classic and geometric morphometric assessment

作者：Eva Hoffmannova^a ; ^{eva.hoffmannova87@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; &Scaron ; á ; rka Bejdová ; ^a ; Jiri Borský ; ^b ; Já ; n Dupej^a ; ^c ; Veronika Cagá ; ňová ; ^a ; Jana Velemí ; nská ; ^a

关键词：Unilateral cleft lip and palate ; Early neonatal cheiloplasty ; 3-D geometric morphometry ; Traditional morphometry ; Palatal growth

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2016

5.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

6.Shared genetic etiology underlying Alzheimer's disease and type 2 diabetes

作者：Ke Hao^a ; ^b ; Antonio Fabio Di Narzo^a ; ^b ; Lap Ho^c ; Wei Luo^a ; ^d ; Shuyu Li^a ; ^b ; Rong Chen^a ; ^b ; Tongbin Li^e ; Lauren Dubner^c ; Giulio Maria Pasinetti^c ; ^f ; ^{giulio.pasinetti@mssm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Alzheimer's disease ; Type 2 diabetes ; GWAS ; Shared genomic component ; eQTLs ; Pathway

刊名：Molecular Aspects of Medicine

出版年：2015

7.Minimum Turnover Analysis in Turkish Tourism Sector

作者：İsmet Kaya ; Muammer Bezirgan ; Bayram Alamur ; ^{alamur_bayram@hotmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Turnover ; Tourism Turnover ; Minimum Turnover

刊名：Procedia - Social and Behavioral Sciences

出版年：2015

8.Solid Lipid Nanoparticles as Antineoplastic Drug Vehicles in Glioblastoma Multiforme: In-vitro and In-vivo Pathological Effects

作者：E. Biasibetti ; L. Battaglia ; M. Gallarate ; E. Peira ; D. Chirio ; E. Muntoni ; A. Valazza ; M. Lanotte ; P.P. Panciani ; C. Riganti ; L. Annovazzi ; V. Caldera ; D. Schiffer ; M.T. Capucchio

刊名：Journal of Comparative Pathology

出版年：January, 2014

9.Prevalence of patient-reported dysphagia in multiple sclerosis patients: An Italian multicenter study (using the DYMUS questionnaire)

作者：C. Solaro ; C. Rezzani ; Erika Trabucco ; M.P. Amato ; V. Zipoli ; E. Portaccio ; M. Giannini ; F. Patti ; E. D'Amico ; J. Frau ; L. Lorefice ; S. Bonavita ; M. Della Corte ; M.G. Grasso ; L. Finamore ; A. Ghezzi ; P. Annovazzi ; M. Rottoli ; C. Gasperini ; D. Restivo ; et al.

关键词：Multiple sclerosis ; Dysphagia ; Swallowing problem ; DYMUS ; Extended Disability Status Scale ; Central Nervous System

刊名：Journal of the Neurological Sciences

出版年：2013

10.Response competition and response inhibition during different choice-discrimination tasks: Evidence from ERP measured inside MRI scanner

作者：Javier J. Gonzalez-Rosa ; Alberto Inuggi ; Valeria Blasi ; Marco Cursi ; Pietro Annovazzi ; Giancarlo Comi ; Andrea Falini ; Letizia Leocani

关键词：ERP ; Go/NoGo ; Response inhibition ; Cognitive conflict ; Response choice task ; Stroop task ; Cingulate cortex ; Cortical Current Density ; EEG-fMRI ; Ballistocardiogram artefact

刊名：International Journal of Psychophysiology

出版年：2013

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