نتائج البحث - Pepe, Guglielmina
- يعرض 1 - 18 نتائج من 18
-
1
-
2
-
3
-
4
-
5
-
6
Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis حسب Giusti, Betti, Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Nistri, Stefano, Pepe, Guglielmina
منشور في 2017نص -
7
-
8
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype حسب Sticchi, Elena, De Cario, Rosina, Magi, Alberto, Giglio, Sabrina, Provenzano, Aldesia, Nistri, Stefano, Pepe, Guglielmina, Giusti, Betti
منشور في 2018نص -
9
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI حسب Camacho Vanegas, Olga, Bertini, Enrico, Zhang, Rui-Zhu, Petrini, Stefania, Minosse, Claudia, Sabatelli, Patrizia, Giusti, Betti, Chu, Mon-Li, Pepe, Guglielmina
منشور في 2001نص -
10
Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach حسب Frasconi, Paolo, Baracchi, Daniele, Giusti, Betti, Kura, Ada, Spaziani, Gaia, Cherubini, Antonella, Favilli, Silvia, Di Lenarda, Andrea, Pepe, Guglielmina, Nistri, Stefano
منشور في 2021نص -
11
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome حسب Pepe, Guglielmina, Nistri, Stefano, Giusti, Betti, Sticchi, Elena, Attanasio, Monica, Porciani, Cristina, Abbate, Rosanna, Bonow, Robert O, Yacoub, Magdi, Gensini, Gian Franco
منشور في 2014نص -
12
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice? حسب De Cario, Rosina, Kura, Ada, Suraci, Samuele, Magi, Alberto, Volta, Andrea, Marcucci, Rossella, Gori, Anna Maria, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
منشور في 2020نص -
13
When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score حسب Pepe, Guglielmina, Giusti, Betti, Colonna, Stefania, Fugazzaro, Maria Pia, Sticchi, Elena, De Cario, Rosina, Kura, Ada, Pratelli, Elisa, Melchiorre, Daniela, Nistri, Stefano
منشور في 2020نص -
14
Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2 حسب Nistri, Stefano, De Cario, Rosina, Sticchi, Elena, Spaziani, Gaia, Della Monica, Matteo, Giglio, Sabrina, Favilli, Silvia, Giusti, Betti, Stefano, Pierluigi, Pepe, Guglielmina
منشور في 2021نص -
15
Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection حسب De Cario, Rosina, Giannini, Marco, Cassioli, Giulia, Kura, Ada, Gori, Anna Maria, Marcucci, Rossella, Nistri, Stefano, Pepe, Guglielmina, Giusti, Betti, Sticchi, Elena
منشور في 2022نص -
16
Diastolic subclinical primary alterations in marfan syndrome and marfan‐related disorders حسب Porciani, Maria Cristina, Giurlani, Letizia, Chelucci, Andrea, Pepe, Guglielmina, Giusti, Betti, Brunelli, Tamara, Attanasio, Monica, Martinucci, Pietro, Fattori, Rossella, Abbatea, Rosanna, Gensini, Gian Franco
منشور في 2006نص -
17
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants حسب van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
منشور في 2019نص -
18
Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion حسب Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
منشور في 2007نص