Results 171 to 180 of about 2,225 (187)

Cystinosis (CTNS)

2008
openaire   +1 more source

Cystinosis (CTNS)

2012
openaire   +1 more source

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

Open Journal of Genetics, 2018

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

Human Mutation, 2002
Vasiliki Kalatzis, Pierre Cochat
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
Maurilio Sampaolesi, Dries David, Elena Levtchenko   +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  

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

Molecular Genetics and Metabolism, 2002
J G Thoene
exaly