Results 191 to 200 of about 3,070 (212)

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

Human Mutation, 2002
Andrea Superti-Furga, Beat Steinmann, Erik Harms   +2 more
exaly  

Cystinosis (CTNS)

2008
openaire   +1 more source

Cystinosis (CTNS)

2012
openaire   +1 more source

People also looked at

Frontiers in Pediatrics, 2019
Farkhondeh Behjati, Miriam Schmidts, Anoush Azarfar   +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
exaly  

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

Human Molecular Genetics, 1999
Corinne Antignac, Stephanie Cherqui, William van't Hoff   +2 more
exaly  

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

American Journal of Human Genetics, 1999
Cathryn Lewis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly  

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis†

Human Mutation, 2002
Vasiliki Kalatzis, Corinne Antignac, Pierre Cochat   +2 more
exaly  

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

Meta Gene, 2015
Latifa Chkioua, Chaker Aloui, Sandrine Laradi   +2 more
exaly  

Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns

BMC Genomics, 2000
Vasiliki Kalatzis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly