Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

por Taruscio, Domenica, Salvatore, Marco, Lumaka, Aimè, Carta, Claudio, Cellai, Laura L., Ferrari, Gianluca, Sciascia, Savino, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, Cutiongco-de la Paz, Eva Maria, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Puri, Ratna Dua, Romero, Vanessa, Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Roccatello, Dario, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel
Publicado 2023

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

por Sciascia, Savino, Roccatello, Dario, Salvatore, Marco, Carta, Claudio, Cellai, Laura L., Ferrari, Gianluca, Lumaka, Aimè, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, Cutiongco-de la Paz, Eva Maria, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Puri, Ratna Dua, Romero, Vanessa I., Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel, Taruscio, Domenica
Publicado 2023

The Human Phenotype Ontology in 2021

por Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Publicado 2020