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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(4)
Elsevier电子期刊(6)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
11
条
1.
TMEM5
-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
作者:
Guja Astrea
a
;
Ilaria Pezzini
a
;
Ester Picillo
b
;
Rosa Pasquariello
a
;
Francesca Moro
a
;
Manuela Ergoli
b
;
Paola D'Ambrosio
b
;
Adele D'Amico
c
;
Luisa Politano
b
;
Filippo Maria Santorelli
a
;
filippo3364@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Congenital muscular dystrophy
;
TMEM5
;
Polymicrogyria
;
Cochlear dysplasia
;
Limb-girdle muscle weakness
刊名:Neuromuscular Disorders
出版年:2016
2.
Identification of possible downstream genes required for the extension of peripheral axons in primary sensory neurons
作者:
Makoto Aoki
;
Hiroshi Segawa
;
Mayumi Naito
;
Hitoshi Okamoto
;
hitoshi@brain.riken.jp" class="auth_mail
关键词:
MO
;
morpholino antisense oligonucleotide
;
cDNA
;
complementary DNA
刊名:Biochemical and Biophysical Research Communications
出版年:7 March, 2014
3.
Identification of Mutations in
TMEM5
and ISPD as a Cause of Severe Cobblestone Lissencephaly
刊名:The American Journal of Human Genetics
出版年:2012
4.
160聽kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome
作者:
Johanna Christina Czeschik
;
Ute Hehr
;
Britta Hartmann
;
Hermann-Josef L眉decke
;
Thorsten Rosenbaum
;
Bernd Schweiger
;
Dagmar Wieczorek
关键词:
ISPD
;
Walker&ndash
;
Warburg syndrome
;
Dystroglycanopathy
;
Hydrocephalus
;
Seizures
;
Cerebellar hypoplasia
;
Corpus callosum agenesis
刊名:European Journal of Medical Genetics
出版年:December, 2013
5.
RNA Sequencing Identifies Novel Genes That Could Modulate Bleeding Risk in Heart Failure Patients after LVAD Placement
作者:
A. Mitchell
1
;
R. Staggs
1
;
W. Guan
1
;
S. Grindle
2
;
N. Adhikari
2
;
S. Hozayen
1
;
R. John
2
;
J.L. Hall
1
;
P. Eckman
1
刊名:The Journal of Heart and Lung Transplantation
出版年:2013
6.
Transmembrane protein 50b (C21orf4), a candidate for Down syndrome neurophenotypes, encodes an intracellular membrane protein expressed in the rodent brain
作者:
R.X. Moldrich
;
J. Lainé
;
A. Visel
;
P.M. Beart
;
J. Laffaire
;
J. Rossier
;
M.-C. Potier
关键词:
Tmem5
0b
;
cerebellum
;
Bergmann glia
;
Down syndrome
;
endoplasmic reticulum
刊名:Neuroscience
出版年:2008
1
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