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内部出版物
SpringerLink电子期刊(2488)
在“
SpringerLink电子期刊
”中,
命中:
2,488
条,耗时:小于0.01 秒
在所有数据库中总计命中:
2,488
条
1.
Functional characterization of
missense
mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
作者:
Patricie Burda
;
Terttu Suormala…
刊名:Journal of Inherited Metabolic Disease
出版年:2017
2.
A
Missense
Variant in
TREML2
Reduces Risk of Alzheimer’s Disease in a Han Chinese Population
作者:
Teng Jiang
;
Yu Wan
;
Jun-Shan Zhou
;
Meng-Shan Tan
;
Qing Huang…
关键词:
TREML2
;
Alzheimer’s disease
;
Han Chinese
;
Variant
刊名:Molecular Neurobiology
出版年:2017
3.
R248G cystic fibrosis transmembrane conductance regulator
mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series
作者:
Seiichi Villalona
;
Guillermo Glover-López…
关键词:
CFTR
;
Missense
mutation
;
Genotype
;
phenotype
;
Congenital absence of vas deferens
刊名:Journal of Medical Case Reports
出版年:2017
4.
A homozygous
PIGN
missense
mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia
作者:
Ana L. Kolicheski
;
Gary S. Johnson
;
Tendai Mhlanga-Mutangadura…
关键词:
Glycosylphosphatidylinositol
;
Multiple congenital anomalies
;
hypotonia
;
seizures syndrome
;
1 (MCAHS1)
;
Phosphatidylinositol glycans
;
Ethanolamine phosphate transferase
1
刊名:neurogenetics
出版年:2017
5.
Exome-chip association analysis reveals an Asian-specific
missense
variant in
PAX4
associated with type 2 diabetes in Chinese individuals
作者:
Chloe Y. Y. Cheung
;
Clara S. Tang
;
Aimin Xu
;
Chi-Ho Lee
;
Ka-Wing Au
;
Lin Xu…
关键词:
Asian
;
specific
;
Exome
;
chip association analysis
;
PAX4
;
Type 2 diabetes
刊名:Diabetologia
出版年:2017
6.
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations
作者:
Siqi Liang
;
Nathaniel D. Tippens
;
Yaoda Zhou
;
Matthew Mort…
关键词:
iRegNet3D
;
Transcriptional regulation
;
TF
;
DNA interaction network
;
TF
;
TF interaction network
;
Chromatin interaction network
;
Inherited disease
;
Disease
;
associated mutation
;
Missense
mutation
;
Non
;
coding mutation
刊名:Genome Biology
出版年:2017
7.
Characterization of
BRCA1
and
BRCA2
variants found in a Norwegian breast or ovarian cancer cohort
作者:
Elisabeth Jarhelle
;
Hilde Monica Frostad Riise Stensland
;
Lovise Mæhle…
关键词:
BRCA1
;
BRCA2
;
Cancer
;
cDNA
;
analysis
;
Functional
;
assay
刊名:Familial Cancer
出版年:2017
8.
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia
作者:
Hiba A. Al-Shawafi
;
Keiichi Komaru
;
Kimimitsu Oda
关键词:
Cross
;
linking
;
Dimerization
;
Disulfide bond
;
Genetic disorder
;
Hypophosphatasia
;
Tissue
;
nonspecific alkaline phosphatase
刊名:Molecular and Cellular Biochemistry
出版年:2017
9.
Two patients with Canavan disease and structural modeling of a novel mutation
作者:
Osama K Zaki
;
Navaneethakrishnan Krishnamoorthy
;
Heba S El Abd…
关键词:
Canavan disease
;
Aspartoacylase
N ;
acetyl
;
aspartate
;
MRI
;
MRS
;
Molecular modeling
;
In silico mutagenesis
刊名:Metabolic Brain Disease
出版年:2017
10.
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention
作者:
Abhimanyu Mahajan
;
Jules Constantinou
;
Christos Sidiropoulos
关键词:
Paroxysmal dystonia
;
Exercise
;
induced dystonia
;
Genetic dystonia
;
Movement disorders
刊名:Journal of Neurology
出版年:2017
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