Results 191 to 200 of about 2,755 (211)

Cystinosis (CTNS)

2012
openaire   +1 more source

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis

Human Mutation, 2002
Michael Kiehntopf, Andrea Superti-Furga, Beat Steinmann   +2 more
exaly  

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

American Journal of Human Genetics, 1999
Genevieve Jean, Stephanie Cherqui, Cathryn M Lewis   +2 more
exaly  

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population

Journal of Pediatric Endocrinology and Metabolism, 2019
Di Wu, Bing-Yan Cao, Chang Su
exaly  

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

Human Molecular Genetics, 1999
Genevieve Jean, Stephanie Cherqui, William Van'T Hoff   +2 more
exaly  

Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene

Meta Gene, 2015
Latifa Chkioua, Chaker Aloui, Abdelhédi Miled   +2 more
exaly  

Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis

Human Mutation, 2002
Vasiliki Kalatzis, Lola Cohen-Solal, Yaacov Frishberg   +2 more
exaly  

Appendix . Overview Of The Ctns/Vo Series

2009
F. L. Shults, N. C. Murphy, R. J. Russell   +2 more
openaire   +1 more source

clinical trial notification (CTN)

2009
openaire   +1 more source

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model

Cells
Louise Medaer, Dries David, Maxime Smits   +2 more
exaly