Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Por Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia
Publicado no Orphanet J Rare Dis (2020)

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Por Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Andrieu, Nadine, Azzollini, Jacopo, Balmaña, Judith, Barroso, Alicia, Benítez, Javier, Bertelsen, Birgitte, Blanco, Ana, Bonanni, Bernardo, Borg, Åke, Brunet, Joan, Calistri, Daniele, Calvello, Mariarosaria, Chvojka, Stepan, Cortesi, Laura, Darder, Esther, Del Valle, Jesús, Diez, Orland, Consortium, ENIGMA, Eon-Marchais, Séverine, Fostira, Florentia, Gensini, Francesca, Houdayer, Claude, Janatova, Marketa, Kiiski, Johanna I, Konstantopoulou, Irene, Kubelka-Sabit, Katerina, Lázaro, Conxi, Lesueur, Fabienne, Manoukian, Siranoush, Marcinkute, Ruta, Mickys, Ugnius, Moncoutier, Virginie, Myszka, Aleksander, Nguyen-Dumont, Tu, Nielsen, Finn Cilius, Norvilas, Rimvydas, Olah, Edith, Osorio, Ana, Papi, Laura, Peissel, Bernard, Peixoto, Ana, Plaseska-Karanfilska, Dijana, Pócza, Timea, Rossing, Maria, Rudaitis, Vilius, Santamariña, Marta, Santos, Catarina, Smichkoska, Snezhana, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Teixeira, Manuel, Törngren, Therese, Toss, Angela, Urioste, Miguel, Vega, Ana, Vlckova, Zdenka, Yannoukakos, Drakoulis, Zampiga, Valentina, Kleibl, Zdenek, Radice, Paolo, Nevanlinna, Heli, Ehrencrona, Hans, Janavicius, Ramunas, Peterlongo, Paolo
Publicado no Cancers (Basel) (2020)