Results 261 to 270 of about 12,876 (273)

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Nature Medicine, 2012
Calvin S Carter, Timothy W Vogel, Seongjin Seo   +2 more
exaly  

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Journal of Medical Genetics, 2012
Jan Halbritter, Moumita Chaki, Constantinos J Stefanidis   +2 more
exaly  

Ciliopathies

2013
openaire   +1 more source

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Human Molecular Genetics, 2011
Artur V Cideciyan, Alejandro J Roman, Edwin M Stone   +2 more
exaly  

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Nature Medicine, 2012
Jeremy C Mcintyre, Erica E Davis, Paul Jenkins   +2 more
exaly  

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Nature Genetics, 2010
Edgar A Otto, Rannar Airik, Moumita Chaki   +2 more
exaly  

Theme series: Cilia and ciliopathies

Biology of the Cell, 2019
Wei Li, Guangshuo Ou
openaire   +2 more sources

Néphronophtise et ciliopathies

2020
openaire   +1 more source

The Classic Ciliopathies

RadioGraphics, 2014
openaire   +1 more source

The Skeletal Ciliopathies

Isabella Collins, Angus K. T. Wann
openaire   +1 more source