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内部出版物
Wiley电子期刊(1)
Springer电子图书(1)
SpringerLink电子期刊(16)
Elsevier电子期刊(44)
在“
Elsevier电子期刊
”中,
命中:
44
条,耗时:小于0.01 秒
在所有数据库中总计命中:
62
条
1.
PP01.7 - 2726: A novel description of a homozygous partial deletion of RBFOX1 gene causing epileptic encephalopathy, severe intellectual disability and progressive post-natal microcephaly
作者:
I. Linder
;
I. Nezer-Kaner
;
E. Leshinsky-Silver
;
S. Kivity
;
M. Michelson
;
D. Lev
;
T.
Lerman
-
Sagie
刊名:European Journal of Paediatric Neurology
出版年:2015
2.
PP12.9 - 2524: Clinical spectrum of TUBB4A-related disorders: Three patients with different phenotypes and course
作者:
A. Zerem
;
D. Lev
;
E. Leshinsky-Silver
;
T.
Lerman
-
Sagie
;
L. Blumkin
刊名:European Journal of Paediatric Neurology
出版年:2015
3.
PP09.10 - 2510: A novel case of periaxin-related neuropathy associated with cataract: Expanding the clinical and molecular spectrum of perxiaxin mutation
作者:
M. Ginsberg
;
D. Lev
;
T.
Lerman
-
Sagie
;
E. Leshinsky-Silver
;
C. Vinkler
刊名:European Journal of Paediatric Neurology
出版年:2015
4.
OP15 - 2728: The epileptic encephalopathy of IQSEC2 mutations
作者:
A. Zerem
;
K. Haginoya
;
L. Blumkin
;
D. Lev
;
C. Shoubridge
;
E.E. Palmer
;
S. Dugan
;
M. Willems
;
S. Gandomi
;
A. Masurel-Paulet
;
W.D. Gaillard
;
I. Linder
;
O. Epstein
;
E. Heyman
;
T. Kleefstra
;
D. Chitayat
;
H. Saitsu
;
N. Matsumoto
;
E. Leshinsky-Silver
;
T.
Lerman
-
Sagie
刊名:European Journal of Paediatric Neurology
出版年:2015
5.
P147 - 2569: Adenylosuccinate lyase deficiency presenting as a paroxysmal movement disorder
作者:
L. Blumkin
;
H. Saitsu
;
N. Matsumoto
;
R. Spiegel
;
E. Leshinsky-Silver
;
D. Lev
;
S. Kivity
;
T.
Lerman
-
Sagie
刊名:European Journal of Paediatric Neurology
出版年:2015
6.
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
作者:
Elizabeth?K. Ruzzo
;
Jos¨¦-Mario Capo-Chichi
;
Bruria Ben-Zeev
;
David Chitayat
;
Hanqian Mao
;
Andrea?L. Pappas
;
Yuki Hitomi
;
Yi-Fan Lu
;
Xiaodi Yao
;
Fadi?F. Hamdan
;
Kimberly Pelak
;
Haike Reznik-Wolf
;
Ifat Bar-Joseph
;
Danit Oz-Levi
;
Dorit Lev
;
Tally
Lerman
-
Sagie
;
Esther Leshinsky-Silver
;
Yair Anikster
;
Edna Ben-Asher
;
Tsviya Olender
;
et al.
刊名:Neuron
出版年:2013
7.
Immunoglobulin Treatment for Severe Childhood Epilepsy
作者:
Karen Geva-Dayan
;
MD
a
;
Zamir Shorer
;
MD
b
;
Shay Menascu
;
MD
c
;
Ilan Linder
;
MD
d
;
Hadassah Goldberg-Stern
;
MD
e
;
Eli Heyman
;
MD
f
;
Tali
Lerman
-
Sagie
;
MD
d
;
Bruria Ben Zeev
;
MD
c
;
Uri Kramer
;
MD
a
;
umkramer@netvision.net.il
刊名:Pediatric Neurology
出版年:2012
8.
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation
作者:
Daniella Nishri
;
Lubov Blumkin
;
Dorit Lev
;
Esther Leshinsky-Silver
;
Mohammad Abu-Rashid
;
Rachael Birch
;
Sameer M. Zuberi
;
Tally
Lerman
-
Sagie
关键词:
SCN1A
;
Severe myoclonic epilepsy of infancy
;
Alpers-Huttenlocher disease
;
Mitochondrial dysfunction
;
Liver failure
;
Valproic acid
刊名:European Journal of Paediatric Neurology
出版年:2010
9.
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3
作者:
Esther Leshinsky-Silver
;
Dorit Lev
;
Gustavo Malinger
;
Daniel Shapira
;
Sarit Cohen
;
Tally
Lerman
-
Sagie
;
Ann Saada
关键词:
Mitochondria
;
Respiratory chain
;
Leigh syndrome
;
mtDNA
;
ND3
刊名:Molecular Genetics and Metabolism
出版年:2010
10.
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement
作者:
E. Leshinsky-Silver
;
Anne-Sophie Lebre
;
Limor Minai
;
Ann Saada
;
Julie Steffann
;
Sarit Cohen
;
Agnes Rö
;
tig
;
Arnold Munnich
;
Dorit Lev
;
Tally
Lerman
-
Sagie
关键词:
Mitochondria
;
Respiratory chain
;
Leigh syndrome
;
NDUFS4
;
Complex I
;
Assembly
刊名:Molecular Genetics and Metabolism
出版年:2009
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