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Wiley电子期刊(7)
SpringerLink电子期刊(221)
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在“
SpringerLink电子期刊
”中,
命中:
221
条,耗时:小于0.01 秒
在所有数据库中总计命中:
592
条
1.
Nevoid basal cell carcinoma syndrome caused by
splicing
mutations in the
PTCH1
gene
作者:
Chise Kato
;
Kentaro Fujii
;
Yuto Arai
;
Hiromi Hatsuse
;
Kazuaki Nagao…
关键词:
Nevoid basal cell carcinoma syndrome
;
PTCH1
;
Splicing
mutation
刊名:Familial Cancer
出版年:2017
2.
Novel mutations in EVC cause
aberrant
splicing
in Ellis–van Creveld syndrome
作者:
Lisong Shi
;
Chunyan Luo
;
Mairaj K. Ahmed
;
Ali B. Attaie…
关键词:
Ellis–van Creveld syndrome
;
EVC
;
Aberrant
splicing
;
Minigene
刊名:Molecular Genetics and Genomics
出版年:2016
3.
Role of pre-mRNA secondary structures in the regulation of alternative
splicing
作者:
P. M. Rubtsov
关键词:
alternative
splicing
;
RNA secondary structures
;
mutations
;
polymorphisms
;
minigenes
刊名:Molecular Biology
出版年:2016
4.
Aberrant
mRNA
splicing
of paired box 4 (PAX4) IVS7-1G>A mutation causing maturity-onset diabetes of the young, type 9
作者:
Jatuporn Sujjitjoon
;
Suwattanee Kooptiwut
;
Nalinee Chongjaroen…
关键词:
PAX4
;
MODY
;
β
;
Cell survival
;
Splice site mutation
;
mRNA
splicing
defect
;
Minigene assay
刊名:Acta Diabetologica
出版年:2016
5.
Identification of important long non-coding RNAs and highly recurrent
aberrant
alternative
splicing
events in hepatocellular carcinoma through integrative analysis of multiple RNA-Seq datasets
作者:
Lu Zhang
;
Xiaoqiao Liu
;
Xuegong Zhang
;
Ronghua Chen
刊名:Molecular Genetics and Genomics
出版年:2016
6.
Novel exonic mutation inducing
aberrant
splicing
in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report
作者:
Tadahiro Yanagi
;
Tatsuki Mizuochi
;
Yugo Takaki
;
Keisuke Eda…
关键词:
IL
;
10
;
IL
;
10 receptor
;
infantile
;
onset inflammatory bowel disease
;
hematopoietic stem cell transplantation
刊名:BMC Gastroenterology
出版年:2016
7.
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA
作者:
Francisco Quiles
;
Mireia Menéndez
;
Eva Tornero…
关键词:
BRCA1
;
BRCA2
;
VUS
;
Splicing
;
RNA
刊名:Breast Cancer Research and Treatment
出版年:2016
8.
Microarray to deep sequencing: transcriptome and miRNA profiling to elucidate molecular pathways in systemic lupus erythematosus
作者:
Geeta Rai
;
Richa Rai
;
Amir Hossein Saeidian
;
Madhukar Rai
关键词:
Systemic lupus erythematosus
;
Microarray
;
DNA methylation
;
microRNA
;
RNA sequencing
刊名:Immunologic Research
出版年:2016
9.
ISOexpresso: a web-based platform for isoform-level expression analysis in human cancer
作者:
In Seok Yang
;
Hyeonju Son
;
Sora Kim
;
Sangwoo Kim
关键词:
Differential expression
;
Isoform
;
Tissue
;
Tumor
;
specific isoform
刊名:BMC Genomics
出版年:2016
10.
Activin Receptor II Ligand Traps and Their Therapeutic Potential in Myelodysplastic Syndromes with Ring Sideroblasts
作者:
Anna Mies
;
Olivier Hermine
;
Uwe Platzbecker
关键词:
MDS
;
Ring sideroblasts
;
Activin receptor ligand trap
;
Luspatercept
;
SF3B1
;
TGF
β
刊名:Current Hematologic Malignancy Reports
出版年:2016
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