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Springer电子图书(1)
CNKI学位论文(18)
CNKI期刊论文0611(1)
知网期刊论文(91)
在“
SpringerLink电子期刊
”中,
命中:
78
条,耗时:小于0.01 秒
在所有数据库中总计命中:
111
条
1.
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing
作者:
Tomohiko Yamamura
;
Naoya Morisada
;
Kandai Nozu…
关键词:
Nephronophthisis
;
related
ciliopathy
;
Targeted resequencing
;
Next generation sequencing
;
SDCCAG8
;
MKKS
;
WDR35
刊名:Clinical and Experimental Nephrology
出版年:2017
2.
Mechanisms of ciliogenesis suppression in dividing cells
作者:
Hidemasa Goto
;
Hironori Inaba
;
Masaki Inagaki
关键词:
Primary cilia
;
Cell cycle
;
Aurora
A ;
Cancer
;
Ciliopathy
刊名:Cellular and Molecular Life Sciences
出版年:2017
3.
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants
作者:
Gabriella Esposito
;
Francesco Testa
;
Miriam Zacchia…
关键词:
Bardet
;
Biedl syndrome
;
BBS1
;
BBS2 and BBS10 gene variants
;
Ciliopathy
;
Renal
;
ocular and audiovestibular phenotype
刊名:BMC Medical Genetics
出版年:2017
4.
Sperm dysfunction and
ciliopathy
作者:
Kazuo Inaba
;
Katsutoshi Mizuno
关键词:
Cilia
;
Ciliopathy
;
Dynein
;
Flagella
;
Sperm
;
Infertility
刊名:Reproductive Medicine and Biology
出版年:2016
5.
Nephronophthisis: should we target cysts or fibrosis?
作者:
Gisela G. Slaats
;
Marc R. Lilien
;
Rachel H. Giles
关键词:
Kidney
;
Cysts
;
Fibrosis
;
Paclitaxel
;
Ciliopathy
;
Cilia
;
NPHP
刊名:Pediatric Nephrology
出版年:2016
6.
Renal transplantation in Bardet–Biedl Syndrome
作者:
Robert M. Haws
;
Aditya Joshi
;
Siddharth A. Shah
;
Omar Alkandari…
关键词:
Bardet–Biedl Syndrome
;
Renal transplant
;
Survival
;
Graft
;
Ciliopathy
;
End
;
stage renal disease
刊名:Pediatric Nephrology
出版年:2016
7.
Hepatorenal fibrocystic diseases in children
作者:
Eujin Park
;
Jiwon M. Lee
;
Yo Han Ahn
;
Hee Gyung Kang
;
II Soo Ha…
关键词:
Autosomal
;
recessive polycystic kidney disease
;
Caroli disease
;
Ciliopathy
;
Congenital hepatic fibrosis
;
Hepatorenal fibrocystic disease
;
Nephronophthisis 13
刊名:Pediatric Nephrology
出版年:2016
8.
A missense mutation in
TUBD1
is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
作者:
Hermann Schwarzenbacher
;
Johann Burgstaller
;
Franz R. Seefried…
关键词:
Braunvieh haplotype 2
;
Juvenile mortality
;
Tubulin delta 1
;
Primary ciliary dyskinesia
;
Ciliopathy
;
Chronic respiratory disease
刊名:BMC Genomics
出版年:2016
9.
Human basal body basics
作者:
Anastassiia Vertii
;
Hui-Fang Hung
;
Heidi Hehnly
;
Stephen Doxsey
关键词:
Basal body
;
Cilium
;
Centrosome
;
Ciliopathy
;
Human
刊名:Cilia
出版年:2016
10.
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome
作者:
Machteld M. Oud
;
Carine Bonnard
;
Dorus A. Mans
;
Umut Altunoglu
;
Sumanty Tohari…
关键词:
Endocrine
;
cerebro
;
osteodysplasia syndrome
;
ECO
;
Intestinal cell kinase
;
ICK
;
Short
;
rib thoracic dysplasia syndrome
;
SRTD
;
Ciliopathy
;
Ciliary defects
刊名:Cilia
出版年:2016
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