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内部出版物
CNKI学位论文(5)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
5
条
1.
Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations
作者:
Yoriko Noguchi
;
MD
;
PhD
a
;
Akira Onishi
;
MD
;
PhD
b
;
Yuji Nakamachi
;
PhD
a
;
Nobuhide Hayashi
;
PhD
a
;
Nur Imma Fatimah Harahap
;
MD
c
;
Mawaddah Ar Rochmah
;
MD
c
;
Ai Shima
;
PhD
c
;
Shinichiro Yanagisawa
;
PhD
d
;
Naoya Morisada
;
MD
;
PhD
c
;
e
;
Taku Nakagawa
;
MD
;
PhD
e
;
Kazumoto Iijima
;
MD
;
PhD
e
;
Shimpei Kasagi
;
MD
;
PhD
a
;
Jun Saegusa
;
MD
;
PhD
a
;
b
;
Seiji Kawano
;
MD
;
PhD
f
;
Masakazu Shinohara
;
MD
;
PhD
c
;
g
;
Shinya Tairaku
;
MD
;
PhD
h
;
Toshio Saito
;
MD
;
PhD
i
;
Yuji Kubo
;
PhD
j
;
Kayoko Saito
;
MD
;
PhD
j
;
Hisahide
Nishio
;
MD
;
PhD
c
;
e
;
nishio
@med.kobe-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
spinal muscular atrophy
;
SMA locus
;
telomeric
;
centromeric
;
structural variation
;
MLPA analysis
刊名:Pediatric Neurology
出版年:2016
2.
Screening of the LIX1 gene in Japanese and Malaysian patients with SMA and/or SMA-like disorder
作者:
Teguh Haryo Sasongko
;
Gunadi
;
Surini Yusoff
;
Amin Baig Atif
;
Hayati Fatemeh
;
Abdulqawee Rani
;
Marzuki Marini
;
Che Badariah Ab Aziz
;
ZAMH Zabidi-Hussin
;
Hisahide
Nishio
;
Bin Alwi Zilfalil
关键词:
Spinal muscular atrophy
;
Non-deleted
SMN1
;
LIX1
;
SNP
;
c.387+107A>
T ;
Direct sequencing
刊名:Brain and Development
出版年:2010
3.
Persistent detection of a novel MLL–SACM1L rearrangement in the absence of leukemia
作者:
Takeshi Mori
;
Noriyuki Nishimura
;
Daiichiro Hasegawa
;
Keiichiro Kawasaki
;
Yoshiyuki Kosaka
;
Kazuko Uchide
;
Tomoko Yanai
;
Akira Hayakawa
;
Yasuhiro Takeshima
;
Hisahide
Nishio
;
Masafumi Matsuo
关键词:
Acute lymphoblastic leukemia
;
Chemotherapy
;
MLL
;
SACM1L
刊名:Leukemia Research
出版年:2010
4.
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients
作者:
Elisabeth Siti Herini
;
Gunadi
;
Indra Sari Kusuma Harahap
;
Surini Yusoff
;
Satoru Morikawa
;
Suryono Yudha Patria
;
Noriyuki Nishimura
;
Sunartini
;
Sutaryo
;
Satoshi Takada
;
Masafumi Matsuo
;
Hisahide
Nishio
关键词:
Generalized epilepsy with febrile seizures plus (GEFS+)
;
Severe myoclonic epilepsy in infancy (SMEI)
;
Febrile seizures plus (FS+)
;
SCN1A
刊名:Epilepsy Research
出版年:2010
5.
Combination of SMN2
作者:
Mohd Shamshudin Watihayati
;
Hayati Fatemeh
;
Marzuki Marini
;
Amin Baig Atif
;
Wan Mohd Zahiruddin
;
Teguh Haryo Sasongko
;
Thean Hock Tang
;
ZAMH Zabidi-Hussin
;
Hisahide
Nishio
;
Bin Alwi Zilfalil
关键词:
Spinal muscular atrophy
;
Survival motor neuron
;
Neuronal apoptosis inhibitory protein
;
Copy number
;
Disease severity
刊名:Brain and Development
出版年:2009
6.
Cadmium exposure induces expression of the HOXB8
作者:
Kanako Nakagawa
;
Myeong Jin Lee
;
Naoko Sasaki
;
Chiyo Hayashi
;
Hisahide
Nishio
关键词:
Cadmium
;
Homeobox gene
;
HOXB8
;
Induction
刊名:Toxicology in Vitro
出版年:2008
7.
Different cytoprotective effect of antioxidants and change in the iron regulatory system in rodent cells exposed to paraquat or formaldehyde
作者:
Ayaki
;
Hitoshi
;
Lee
;
Myeong Jin
;
Sumino
;
Kimiaki
;
Nishio
;
Hisahide
关键词:
Paraquat
;
Formaldehyde
;
N
-acetyl-l-cysteine
;
Pyrrolidine dithiocarbamate
;
Desferrioxamine
;
Oxidative stress
刊名:Toxicology
出版年:2005
8.
Upregulation of stress response mRNAs in COS-7 cells exposed to cadmium
作者:
Lee
;
Myeong Jin
;
Nishio
;
Hisahide
;
Ayaki
;
Hitoshi
;
Yamamoto
;
Mitsuaki
;
Sumino
;
Kimiaki
关键词:
Cadmium
;
Suppression subtractive hybridization
;
Heat shock protein
;
COS-7
刊名:Toxicology
出版年:2002
9.
Molecular genetic analysis of the Prader–Willi syndrome by using fluorescent multiplex PCR of the dinucleotide repeats on chromosome 15q11–q13
作者:
Lee
;
Myeong Jin
;
Nishio
;
Hisahide
;
Nagai
;
Toshiro
;
Okamoto
;
Nobuhiko
;
Yuki
;
Tsuyoshi
;
Sumino
;
Kimiaki
关键词:
Prader&ndash
;
Willi syndrome
;
Chromosome 15
;
(CA)
n
dinucleotide repeat polymorphisms
;
Deletion
;
Maternal uniparental disomy
刊名:Clinica Chimica Acta
出版年:1998
10.
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency
作者:
Wada
;
Hiroko
;
Woo
;
Man
;
Nishio
;
Hisahide
;
Nagaki
;
Shoko
;
Yanagawa
;
Hiroshi
;
Imamura
;
Atsuko
;
et. al.
关键词:
Mitochondrial myopathy
;
Cytochrome c oxidase
;
Muscle biopsy
;
Blood vessel
刊名:Brain and Development
出版年:1996
1
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