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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
170
条,耗时:小于0.01 秒
1.
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism–Epilepsy Phenotype with
Macrocephaly
作者:
Maria Marchese
;
Giulia Valvo
;
Francesca Moro
;
Federico Sicca…
关键词:
Autism
;
Epilepsy
;
Macrocephaly
;
Tripartite synapse
;
Next
;
generation sequencing
刊名:NeuroMolecular Medicine
出版年:2016
2.
Temporal lobe connects regression and
macrocephaly
to autism spectrum disorders
作者:
Giulia Valvo
;
Sara Baldini
;
Alessandra Retico…
关键词:
Autism
;
EEG
;
Regression
;
Macrocephaly
;
Temporal lobe
刊名:European Child & Adolescent Psychiatry
出版年:2016
3.
De novo missense variants in PPP2R5D are associated with intellectual disability,
macrocephaly
, hypotonia, and autism
作者:
Linshan Shang
;
Lindsay B. Henderson
;
Megan T. Cho
;
Donald S. Petrey…
关键词:
PPP2R5D
;
Intellectual disabilities
;
Whole
;
exome sequencing
;
De novo mutations
;
Protein phosphatase
;
Autism spectrum disorder
刊名:neurogenetics
出版年:2016
4.
Congenital myotonic dystrophy: ventriculomegaly and shunt considerations for the pediatric neurosurgeon
作者:
Ian S. Mutchnick
;
Meena A. Thatikunta
;
William C. Gump…
关键词:
Hydrocephalus
;
Genetic
;
Macrocephaly
;
Neonatal
刊名:Child's Nervous System
出版年:2016
5.
3-HMG Coenzyme A Lyase Deficiency:
Macrocephaly
and Left Ventricular Noncompaction with a Novel Mutation
作者:
Tülin K?ksal
;
Mehmet Gündüz
;
Eda ?zayd?n
;
Emine Azak
关键词:3 ;
hydroxy
3 ;
methylglutaryl
;
coenzyme A lyase
;
Macrocephaly
;
Left ventricular noncompaction
刊名:The Indian Journal of Pediatrics
出版年:2015
6.
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with
macrocephaly
and the presence of several other genes for syndromic intellectual disability
作者:
Jonathan D. J. Labonne
;
Yiping Shen
;
Il-Keun Kong…
关键词:
1p microdeletion
;
Intellectual disability
;
Delayed psychomotor development
;
Craniofacial anomalies
;
DAB1
;
HOOK1
;
NFIA
;
DOCK7
;
DNAJC6
;
PDE4B
刊名:Molecular Cytogenetics
出版年:2016
7.
Autism-epilepsy phenotype with
macrocephaly
suggests PTEN, but not GLIALCAM, genetic screening
作者:
Maria Marchese (1)
Valerio Conti (2)
Giulia Valvo (3)
Francesca Moro (1)
Filippo Muratori (4)
Raffaella Tancredi (4)
Filippo M Santorelli (1)
Renzo Guerrini (2) (3)
Federico Sicca (3)
关键词:
Autism spectrum disorders
;
Autism
;
epilepsy phenotype
;
Macrocephaly
;
GLIALCAM
;
PTEN
刊名:BMC Medical Genetics
出版年:2014
8.
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in
MLC1
and
HEPACAM
and a founder effect
作者:
Ghada M. H. Abdel-Salam
;
Mohamed S. Abdel-Hamid…
关键词:
Megalencephaly
;
Leukoencephalopathy
;
Subcortical cysts
;
HEPACAM
;
MLC1
;
Intrafamilial variability
;
Portwine facial hemangioma with facial hemihypertrophy
;
Founder effect
刊名:Metabolic Brain Disease
出版年:2016
9.
Childhood acromegaly due to X-linked acrogigantism: long term follow-up
作者:
Rebecca J. Gordon
;
Jennifer Bell
;
Wendy K. Chung
;
Raphael David…
关键词:
Acromegaly
;
Pediatrics
;
Pituitary adenoma
X ;
linked acrogigantism syndrome
刊名:Pituitary
出版年:2016
10.
Reduction cranioplasty for
macrocephaly
with long-standing hydrocephalus and non-fused fontanelle in Chiari malformation type I
作者:
Jong-Il Choi (1)
Eun Sang Dhong (2)
Dong-Jun Lim (1)
Sang-Dae Kim (1)
关键词:
Chiari I malformation
;
Hydrocephalic
macrocephaly
;
Bony defect
;
Reduction cranioplasty
;
Occipital encephalocele
刊名:Child's Nervous System
出版年:2014
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