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内部出版物
CNKI学位论文(6)
知网期刊论文(30)
在“
SpringerLink电子期刊
”中,
命中:
20
条,耗时:小于0.01 秒
在所有数据库中总计命中:
36
条
1.
Novel
OCRL1
gene mutations in six Chinese families with Lowe syndrome
作者:
Yan Gao
;
Fang Jiang
;
Zhi-Ying Ou
关键词:
Lowe syndrome
;
mutation
;
OCRL
gene
刊名:World Journal of Pediatrics
出版年:2016
2.
Novel Mutation of
OCRL1
in Lowe Syndrome
作者:
Ting Liu (1)
Zhihui Yue (1)
Haiyan Wang (1) (2)
Huajuan Tong (1)
Liangzhong Sun (1)
1. Department of Pediatrics
;
The First Affiliated Hospital
;
Sun Yat-sen University
;
Guangzhou
;
510080
;
People鈥檚 Republic of China
2. Department of Pediatrics
;
Sun Yat-sen Memorial Hospital
;
Sun Yat-sen University
;
Guangzhou
;
510120
;
People鈥檚 Republic of China
关键词:
OCRL1
;
Lowe syndrome
;
Congenital cataracts
;
Renal tubular acidosis
刊名:The Indian Journal of Pediatrics
出版年:2015
3.
A novel and de novo deletion in the
OCRL1
gene associated with a severe form of Lowe syndrome
作者:
Ramón Peces (1)
Carlos Peces (2)
Erika de Sousa (1)
Cristina Vega (1)
Rafael Selgas (1)
Julián Nevado (3)
关键词:
Cataracts
;
Exonic deletion
;
Low molecular weight proteinuria
;
Mental retardation
;
Proximal tubulopathy
刊名:International Urology and Nephrology
出版年:2013
4.
OCRL1
mutation in a boy with Dent disease, mild mental retardation, but without cataracts
作者:
Vladimir J. Lozanovski (1) (5)
N. Ristoska-Bojkovska (2)
P. Korneti (3)
Z. Gucev (4)
V. Tasic (2)
关键词:
cataracts
;
Dent disease
;
Lowe syndrome
;
OCRL1
;
CLCN5
刊名:World Journal of Pediatrics
出版年:2011
5.
A novel CLCN5 mutation in a Chinese boy with Dent’s disease
作者:
Li-Na Ji (1)
Chao-Ying Chen (1)
Jing-Jing Wang (1)
Li Cao (1)
关键词:
CLCN5
;
Dent’s disease
;
gene mutation
;
hypercalciuria
;
proteinuria
刊名:World Journal of Pediatrics
出版年:2014
6.
Locus heterogeneity of Dent¡¯s disease:
OCRL1
and
TMEM27
genes in patients with no
CLCN5
mutations
作者:
Enrica Tosetto
;
Maria Addis
;
Gianluca Caridi
;
Cristiana Meloni
;
Francesco Emma
;
Gianluca Vergine
;
Gilda Stringini
;
Teresa Papalia
;
Giancarlo Barbano and Gian Marco Ghiggeri
;
et al.
关键词:
Dent’
;
s disease 2
;
Genotype
;
phenotype correlation
;
Lowe syndrome
;
OCRL1
mutations
;
TMEM27 gene
刊名:Pediatric Nephrology
出版年:2009
7.
OCRL1
mutations in patients with Dent disease phenotype in Japan
作者:
Takashi Sekine
;
Kandai Nozu
;
Rashmi Iyengar
;
Xue Jun Fu
;
Masafumi Matsuo
;
Ryojiro Tanaka
;
Kazumoto Iijima
;
Emiko Matsui
;
Yutaka Harita and Jun Inatomi
;
et al.
关键词:
Dent disease
;
Lowe syndrome
;
OCRL1
;
CLCN5
刊名:Pediatric Nephrology
出版年:2007
8.
The Lowe syndrome protein
OCRL1
is involved in primary cilia assembly
作者:
V Hernandez (1)
BG Coon (2)
K Madhivanan (2)
D Mukherjee (2)
CB Hanna (2)
I Barinaga-Rementeria Ramirez (3)
M Lowe (3)
PL Beales (1)
RC Aguilar (2)
刊名:Cilia
出版年:2012
9.
Mutations in
OCRL1
gene in Indian children with Lowe syndrome
作者:
Sidharth Kumar Sethi
;
Arvind Bagga
;
Ashima Gulati
;
Pankaj Hari
;
Neerja Gupta and Joel Lunardi
关键词:
Oculocerebrorenal syndrome
;
OCRL1
gene
;
Renal tubular acidosis
刊名:Clinical and Experimental Nephrology
出版年:2008
10.
OCRL1
mutations in patients with Dent disease phenotype in Japan
作者:
Takashi Sekine
;
Kandai Nozu
;
Rashmi Iyengar
;
Xue Jun Fu
;
Masafumi Matsuo
;
Ryojiro Tanaka
;
Kazumoto Iijima
;
Emiko Matsui
;
Yutaka Harita and Jun Inatomi
;
et al.
关键词:
Dent disease
;
Lowe syndrome
;
OCRL1
;
CLCN5
刊名:Pediatric Nephrology
出版年:2007
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