CRS4

Publications de Basel-vanagaite au CRS4


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Publications en 2015
Peer-reviewed publications in International Journals
[2-MUD15] [Add to your selection]
Keppen-Lubinsky syndrome is caused by mutations in the inwardly-rectifying K+ channel encoded by KCNJ6
Andrea Masotti, Paolo Uva, Laura Davis-Keppen, Lina Basel-Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paolo Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola
American Journal of Human Genetics - 2015  doi: 10.1016/j.ajhg.2014.12.011
 
Publications en 2014
Peer-reviewed publications in International Journals
[2-PCT14] [Add to your selection]
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Roberta Piras, Francesca Chiappe, Il Torracca, I Buers, Gianluca Usala, Andrea Angius, MA Akin, Lina Basel-Vanagaite, Fabrizio Benedicenti, E Chiodin, O El Assy, M Feingold-Zadok, J Guibert, B Kamien, CS Kasapkara, E Kiliç, K Boduroğlu, S Kurtoglu, AY Manzur, EE Onal, E Paderi, CH Roche, Russell Turner, S Unal, GE Utine, G Zanda, A Zankl, G Zampino, Giangiorgio Crisponi, Frank Rutsch
Human Mutation Wiley pages 424-33 vol. 35 (4) - march 2014  doi: 10.1002/humu.22522

2 publications Download the selection