Browsing by Author Salvador, Hector
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Dec-2022 | Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort | Hendricks, Linda A.J.; Hoogerbrugge, Nicoline; Venselaar, Hanka; Aretz, Stefan; Spier, Isabel; Legius, Eric; Brems, Hilde; De Putter, Robin; Claes, Kathleen B.M.; Evans, D. Gareth; Woodward, Emma R.; Genuardi, Maurizio; Brugnoletti, Fulvia; Van Ierland, Yvette; Dijke, Kim; Tham, Emma; Tesi, Bianca; Schuurs Hoeijmakers, Janneke H.M.; Branchaud, Maud; Salvador, Hector; Jahn, Arne; Schnaiter, Simon; Anastasiadou, Violetta Christophidou; Brunet, Joan; Oliveira, Carla; Roht, Laura; Blatnik, Ana; Irmejs, Arvids; Mensenkamp, Arjen R.; Vos, Janet R.; Duijkers, Floor; Giltay, Jacques C.; Van Hest, Liselotte P.; Kleefstra, Tjitske; Leter, Edward M.; Nielsen, Maartje; Nijmeijer, Sebastiaan W.R.; Olderode-berends, Maran J.W. |
| 16-Jul-2020 | High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers | González Acosta, María Isabel; Marín, Fátima; Puliafito, Benjamin; Bonifaci Cano, Núria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer Prunés, Francesc; Iglesias, Silvia; Velasco, Àngela; Grau Garcés, Èlia; Moreno Aguado, Víctor; González Granado, Luis Ignacio; Guerra García, Pilar; Ayala, Rosa; Florkin, Benoît; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A.; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Jürgen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, thomas; Demirsoy, Ugur; Brunet, Joan; Lázaro García, Conxi; Rueda, Daniel; Wimmer, Katharina; Capellá, G. (Gabriel); Pineda, Marta |
| Feb-2020 | Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules | Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel Moreno, Bernat; Alibés, Andreu; Baena, Neus; Pineda Marfà, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Vilageliu i Arqués, Lluïsa; Brems, Hilde; Grinberg Vaisman, Daniel Raúl; Legius, Eric; Serra Arenas, Eduard |