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SpringerLink电子期刊(7)

Elsevier电子期刊(7)

在“Elsevier电子期刊”中，命中：7条，耗时：0.0159918 秒

在所有数据库中总计命中：14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.Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

作者：Janine Reunert^a ; Manfred Fobker^b ; Frank Kannenberg^b ; Ingrid Du Chesne^a ; Maria Plate^a ; Judith Wellhausen^a ; Stephan Rust^a ; Thorsten Marquardt^a ; ^{marquat@uni-muenster.de" class="auth_mail" title="E-mail the corresponding author}

关键词：NPC ; Niemann Pick type C ; c-triol/cholestantriol ; cholestane-3β ; 5α ; 6β-triol ; 7-KC ; 7-ketocholesterol ; CESD ; cholesterol ester storage disease ; EVS ; exome variant server ; HGMD ; Human Gene Mutation Database ; ROC ; receiver-operating-characteristic

刊名：EBioMedicine

出版年：2016

3.Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders

作者：H. Hilger Ropers ; ^{ropers@molgen.mpg.de" class="auth_mail" title="E-mail the corresponding author}

刊名：European Journal of Medical Genetics

出版年：2015

4.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

5.Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) 鈥?Further extension of the mutational spectrum

作者：Aleksander Jamsheer^a ; ^b ; ^{jamsheer@wp.pl" class="auth_mail} ; Anna Sowi艅ska-Seidler^a ; Magdalena Socha^a ; Agnieszka Stembalska^c ; Cathy Kiraly-Borri^d ; Anna Latos-Biele艅ska^a ; ^b

关键词：ASD ; atrial septal defect ; AVSD ; atrioventricular septal defect ; CHD ; congenital heart defect ; Cx43 ; connexin 43 ; EVS ; exome variant server ; FISH ; fluorescent in situ hybridization ; GJA1 ; gap junction alpha 1 gene ; GJPA1 ; gap junction alpha 1 pseudogene ; HGMD ; human gene mutation database ; HLHS ; hypoplastic left heart syndrome ; MRI ; magnetic resonance imaging ; ODDD ; oculo-dento-digital dysplasia ; ODDS ; oculo-dento-digital syndrome ; PCR ; polymerase chain reaction ; SDTY3 ; syndactyly type 3 ; SIFT

刊名：Gene

出版年：10 April, 2014

6.Rare Variants in GJA5 Are Associated With Early-Onset Lone Atrial Fibrillation

作者：Ingrid E. Christophersen ; MD^a ; ^b ; Haya N. Holmegard ; MScPharm^a ; ^b ; Javad Jabbari ; MSc^a ; ^b ; Stig Haunsø ; MD ; DMSc^a ; ^b ; ^c ; Arnljot Tveit ; MD ; DMSc^d ; Jesper H. Svendsen ; MD ; DMSc^a ; ^b ; ^c ; Morten S. Olesen ; MSc ; PhD^a ; ^b ; ^{morten.salling.olesen@rh.regionh.dk}

刊名：Canadian Journal of Cardiology

出版年：2013

7.SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism

作者：Senthil K. Sundaram ; Harry T. Chugani ; Vijay N. Tiwari ; A.H.M.M. Huq

刊名：Pediatric Neurology

出版年：2013

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