Publications de Buers au CRS4



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3 publications Download the selection

Publications en 2019
Peer-reviewed publications in International Journals
[2-AUO19]
Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses
Andrea Angius, Paolo Uva, Manuela Oppo, I Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, ..., Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi
Clinical Genetics - 2019  doi: 10.1111/cge.13532
 
Publications en 2016
Peer-reviewed publications in International Journals
[2-AUB16]
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Andrea Angius, Paolo Uva, I Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, ..., G Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch
American Journal of Human Genetics pages 236-245 vol. 99 num. 1 - july 2016  doi: 10.1016/j.ajhg.2016.05.026
 
Publications en 2014
Peer-reviewed publications in International Journals
[2-PCT14]
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

3 publications Download the selection