Results 131 to 140 of about 2,290 (147)

Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant

Frontiers in Pediatrics, 2022
Yan-Nan Guo, Lili Liu
exaly  

Authentication protocol in CTNs for a CWD-WPT charging system in a cloud environment

Ad Hoc Networks, 2020
Paulo Gondim
exaly  

Analysis of CTNS gene transcripts in nephropathic cystinosis

Pediatric Nephrology, 2010
Elena Levtchenko, Francesco Bellomo, Martijn Wilmer   +2 more
exaly  

<i>CTNS</i> Molecular Genetics Profile in a Portuguese Cystinosis Population

Open Journal of Genetics, 2018

exaly  

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

Human Mutation, 2002
Andrea Superti-Furga
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 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, Cecile Acquaviva Bourdain   +2 more
exaly