Results 191 to 200 of about 3,017 (208)

Cystinosis (CTNS)

2012
openaire   +1 more source

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 M Lewis, Corinne Antignac, Stephanie Cherqui   +2 more
exaly  

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

Human Mutation, 2002
Vasiliki Kalatzis, Pierre Cochat
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  

Appendix . Overview Of The Ctns/Vo Series

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

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation

Clinical Case Reports (discontinued), 2018
Ekaterina Surkova
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  

clinical trial notification (CTN)

2009
openaire   +1 more source

Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

Molecular Genetics and Metabolism, 2002
J G Thoene
exaly