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内部出版物
SpringerLink电子期刊(1157)
在“
SpringerLink电子期刊
”中,
命中:
1,157
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,157
条
1.
DRD2 C957T
polymorphism is associated with improved 6-month verbal learning following traumatic brain injury
作者:
John K. Yue
;
Ethan A. Winkler
;
Jonathan W. Rick
;
John F. Burke…
关键词:
Traumatic brain injury
;
Genetic factors
;
Cognition
;
Outcome measures
;
Human studies
刊名:
neurogenet
ics
出版年:2017
2.
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:
neurogenet
ics
出版年:2017
3.
Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson’s disease revealed different epigenetic patterns in peripheral blood mononuclear cells
作者:
Oliver Kaut
;
Ina Schmitt
;
Jörg Tost
;
Florence Busato
;
Yi Liu
;
Per Hofmann…
关键词:
Neurodegeneration
;
Microarray
;
Biomarker
;
Movement disorder
刊名:
neurogenet
ics
出版年:2017
4.
Mosaicism in
ATP1A3
-related disorders: not just a theoretical risk
作者:
Marie Hully
;
Juliette Ropars
;
Laurence Hubert
;
Nathalie Boddaert…
关键词:
ATP1A3
;
Mosaicism
;
Alternating hemiplegia of childhood (AHC)
;
Rapid onset dystonia parkinsonism (RDP)
;
Genetic counseling
刊名:
neurogenet
ics
出版年:2017
5.
SBF1
mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement
作者:
Andreea Manole
;
Alejandro Horga
;
Josep Gamez
;
Nuria Raguer
;
Maria Salvado…
关键词:
Charcot
;
Marie
;
Tooth disease
;
Inherited neuropathy
;
MTMR2
;
SBF1
;
SBF2
;
Whole
;
exome sequencing
刊名:
neurogenet
ics
出版年:2017
6.
Circular RNAs—one of the enigmas of the brain
作者:
Ivan B. Filippenkov
;
Eugene O. Kalinichenko
;
Svetlana A. Limborska…
关键词:
Circular RNAs
;
Inverted repeats
;
Tissue
;
specific expression
;
microRNA
;
Sphingomyelin synthase 1 gene
;
Multi
;
exon 5′UTR
刊名:
neurogenet
ics
出版年:2017
7.
Mosaicism for a pathogenic
MFN2
mutation causes minimal clinical features of CMT2A in the parent of a severely affected child
作者:
Katherine Schon
;
Olivera Spasic-Boskovic
;
Kim Brugger
;
Tracey D. Graves…
关键词:
MFN2
;
CMT2A
;
Mosaicism
;
Charcot
;
Marie
;
tooth disease
刊名:
neurogenet
ics
出版年:2017
8.
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy
作者:
Aviva Fattal-Valevski
;
Hila Eliyahu
;
NItai D. Fraenkel
;
Ganit Elmaliach…
关键词:
Mitochondrial encephalopathy
;
Tricarboxylic acid cycle
;
Epilepsy
刊名:
neurogenet
ics
出版年:2017
9.
Neurogenet
ics in Child Neurology: Redefining a Discipline in the Twenty-first Century
作者:
Walter E. Kaufmann
关键词:
Neurogenet
ics
;
Genetic diagnosis
;
Disorder
;
specific clinic
;
Undiagnosed disease
;
Pediatric neurology
刊名:Current Neurology and Neuroscience Reports
出版年:2016
10.
Hydroxyurea Treatment and Development of the Rat Cerebellum: Effects on the
Neurogenet
ic Profiles and Settled Patterns of Purkinje Cells and Deep Cerebellar Nuclei Neurons
作者:
Joaquín Martí
;
M. C. Santa-Cruz
;
Roger Serra
;
José P. Hervás
关键词:
Prenatal
;
Hydroxyurea
;
Cerebellum
;
Timetables of neurogenesis
;
Neurogenet
ic gradients
刊名:Neurotoxicity Research
出版年:2016
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