Results 201 to 210 of about 3,070 (212)

Appendix . Overview Of The Ctns/Vo Series

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

Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction

Molecular Genetics and Metabolism, 2002
J G Thoene
exaly  

molecular genetics profile in a Persian nephropathic cystinosis population

Nefrologia, 2017
Farideh Ghazi, Babak Behnam, William A Gahl   +2 more
exaly  

clinical trial notification (CTN)

2009
openaire   +1 more source

Current CDVs for cTn Produce Misdiagnosis of AMI

MD Conference Express, 2014
P. Vinall, K. S. Wildi
openaire   +1 more source

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis

Human Genetics, 2004
Robert Kleta, William A Gahl, Maximilian Muenke   +2 more
exaly  

Translational read-through of CTNS nonsense mutations and attenuation of CTNS nonsense-mediated mRNA decay by ELX-02 treatment

Molecular Genetics and Metabolism, 2018
Iris Alroy, Meytal Shohat, Idit Eshkar-Oren, Pedro Huertas   +3 more
openaire   +1 more source

Functional analysis of the CTNS gene exonic variants predicted to affect splicing

Clinical Genetics
Ruixiao Zhang, Wencong Guo, Changying Li
exaly  

Mechanisms of bacterial membrane permeabilization of snake venom-derived peptides crotalicidin (Ctn) and Ctn[15-34]

2018
Perez-Peinado, Clara, Almeida Dias, Susana, Domingues, Marco M., Benfield, Aurelie H., Miguel Freire, Jodo, Radis-Baptista, Gandhi, Gaspar, Diana, Castanho, Miguel, Craik, David, Henriques, Sonia Troeira, Salome Veiga, Ana, Andreu, David   +11 more
openaire   +1 more source