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CNKI期刊论文0611(3)
在“
Elsevier电子期刊
”中,
命中:
3,567
条,耗时:0.0149944 秒
在所有数据库中总计命中:
4,222
条
1.
C syndrome with skeletal anomalies,
mental
retardation
, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child
作者:
Rabah M. Shawky
;
shawkyrabah@yahoo.com
;
Radwa Gamal
关键词:
C syndrome
;
Skeletal anomalies
;
Mental
retardation
;
Eye lid chalazion
;
Bitot&rsquo
;
s spots
;
Agenesis of corpus callosum
刊名:Egyptian Journal of Medical Human Genetics
出版年:2017
2.
The ‘normal’ range of FMR1 triple CGG repeats may be associated with primary ovarian insufficiency in China
作者:
Cui-Ling Lu
a
;
b
;
c
Author Vitae
;
Rong Li
a
;
b
;
c
;
Xin-Na Chen
a
;
b
;
c
;
Yang-Ying Xu
a
;
b
;
c
;
Li-Ying Yan
a
;
b
;
c
;
Jie Yan
a
;
b
;
c
;
Yao-Yao Zhang
a
;
b
;
c
;
Hong-Yan Jin
a
;
b
;
c
;
Wen-Xin Zhang
a
;
b
;
c
;
Jie Qiao
a
;
b
;
c
;
jie.qiao@263.net
;
Xiu-Mei Zhen
a
;
b
;
c
;
xmzhen1970@aliyun.com
关键词:
CGG repeat
;
primary ovarian insufficiency (POI)
;
fragile X
mental
retardation
1 (FMR1)
;
occurrence
;
resumption
刊名:Reproductive BioMedicine Online
出版年:2017
3.
Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation
作者:
Darren R. Hocking
a
;
D.Hocking@latrobe.edu.au
;
Rachael C. Birch
b
;
Quang M. Bui
c
;
Jasmine C. Menant
d
;
e
;
Stephen R. Lord
d
;
Nellie Georgiou-Karistianis
f
;
David E. Godler
g
;
Wei Wen
h
;
Anna Hackett
i
;
j
;
Carolyn Rogers
i
;
Julian N. Trollor
b
;
h
;
j.trollor@unsw.edu.au
关键词:
FMR1 premutation carrier
;
Fragile X
mental
retardation
gene 1 (FMR1)
;
Cerebellar motor networks
;
Cognitive-motor interference
;
Step initiation
;
Choice stepping reaction time
;
Motor symptoms
;
Postural balance
刊名:Neurobiology of Aging
出版年:2017
4.
Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
作者:
Rabah M. Shawky
;
shawkyrabah@yahoo.com
;
Radwa Gamal
;
Nayera Mostafa
关键词:
Kabuki make-up syndrome
;
Genitourinary anomalies
;
Hyperpigmentation
;
Mental
retardation
刊名:Egyptian Journal of Medical Human Genetics
出版年:2017
5.
A 10.43 Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development
作者:
Eduardo Santoro
a
;
eduu_sl@hotmail.com
;
Henrique Pandolfo
b
;
hen.celta@hotmail.com
;
Jill Rosenfeld
c
;
1
;
Jill.Mokry@bcm.edu
;
Salmo Raskin
b
;
d
;
e
;
genetika@genetika.com.br
关键词:
CGH
;
Delay
;
Development
;
Psychomotor
;
Retardation
;
Mental
;
Duplication
;
Chromosome 5
;
5q31.2-q32
刊名:Meta Gene
出版年:2017
6.
Histone deacetylases inhibitors (HDACis) as novel therapeutic application in various clinical diseases
作者:
Xiaoyan Qiu
;
Xiong Xiao
;
Nan Li
;
Yuemin Li
;
lym@swu.edu.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
HAT
;
histone acetyltransferases
;
HSP70
;
heat shock protein 70
;
GDNF
;
glial cell line-derived neurotrophic factor
;
BDNF
;
brain derived neurotrophic factor
;
SMN
;
survival motor neuron
;
FMR
;
fragile X
mental
retardation
;
iNOS
;
inducible nitric oxide synthase
;
MMP-9
;
matrix metalloproteinase-9
;
MIP-1
;
macrophage inflammatory protein-1
;
MCP-1
;
monocyte chemoattractant protein-1
;
IGFBP-3
;
insulin-like growth factors binding protein-3
;
PCNA
;
proliferating cell nuclear antigen
;
FADD
;
fas associated deat
刊名:Progress in Neuropsychopharmacology & Biological Psychiatry
出版年:2017
7.
Prenatal irradiation-induced brain neuropathology and cognitive impairment
作者:
Bo Yang
a
;
Bo Xu Ren
a
;
boxuren188@163.com
;
Feng Ru Tang
b
;
tangfr@gmail.com
关键词:
Prenatal
;
Ionizing radiation
;
Neuropathology
;
Brain diseases
刊名:Brain and Development
出版年:2017
8.
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1
作者:
Lina Basel-Vanagaite
a
;
b
;
c
;
d
;
basel@post.tau.ac.il
;
Nir Pillar
h
;
Ofer Isakov
h
;
Pola Smirin-Yosef
e
;
Irina Lagovsky
b
;
d
;
Naama Orenstein
a
;
c
;
Mali Salmon-Divon
e
;
Hannah Tamary
b
;
f
;
Tami Zaft
a
;
Lily Bazak
a
;
Joseph Meyerovitch
b
;
g
;
Tal Pelli
h
;
Shay Botchan
h
;
Luba Farberov
h
;
Daphna Weissglas-Volkov
h
;
Noam Shomron
h
;
nshomron@post.tau.ac.il
关键词:
X-linked
;
Elliptocytosis
;
AMMECR1 gene
;
Genomics
刊名:Gene
出版年:2017
9.
Two mild cases of Dravet syndrome with truncating mutation of SCN1A
作者:
Toru Takaori
a
;
torutakaori@gmail.com
;
Akira Kumakura
a
;
Atsushi Ishii
b
;
Shinichi Hirose
b
;
Daisuke Hata
a
关键词:
Dravet syndrome
;
SCN1A truncating mutation
;
Mild phenotype
刊名:Brain and Development
出版年:2017
10.
Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild
mental
retardation
in an Egyptian child
作者:
Rabah M. Shawky
;
Radwa Gamal
关键词:
Christ-Siemens-Touraine syndrome
;
Cleft palate
;
Absent nipples
;
Gall stones
;
Mental
retardation
刊名:Egyptian Journal of Medical Human Genetics
出版年:2016
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