Treffer 1 - 20 von 1.018 für Suche 'Horvath, A. Rita', Suchdauer: 2,25s Treffer weiter einschränken
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    An international classification of inherited metabolic disorders (ICIMD) von Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo


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    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing von Banka, Siddharth, Ciolfi, Andrea, Dallapiccola, Bruno, Gilissen, Christian, López-Martín, Estrella, Ryba, Lukas, Tartaglia, Marco, Thevenon, Julien, Tran Mau-Them, Frédéric, Votypka, Pavel, Faivre, Laurence, Gilissen, Christian, Jackson, Adam, Kleefstra, Tjitske, Santen, Gijs W.E., Verloes, Alain, Votypka, Pavel, Gao, Fei, Johari, Mridul, Morsy, Heba, Robinson, Peter, Zurek, Birte, Kegele, Josua, Scheffer, Hans, van de Warrenburg, Bart, Steehouwer, Marloes, Maddi, Vatsalya, Riaz, Umar, Dizjikan, Farid Yavari, Straub, Volker, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Gumus, Gulcin, Lagorce, David, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Evangelista, Teresinha, Metay, Corinne, Eymard, Bruno, Thomas, Coline, Spalding, Dylan, Magrinelli, Francesca, Sisodiya, Sanjay M., Zaharieva, Irina, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Piluso, Giulio, Rossi, Rachele, Matos, Ana Rita, Gullo, Irene, Fernandes, Susana, Zonneveld-Huijssoon, Eveline, van Gijn, Marielle, Mignot, Cyril, Lacombe, Didier, Holinski-Feder, Elke, Cilio, Maria-Roberta, Depondt, Chantal, Lederer, Damien, Mary, Sandrine, Pérez-Dueñas, Belén, Masó, Laura Batlle, Hemelsoet, Dimitri, Depienne, Christel, Iacomino, Michele, Scala, Marcello, Bourbouli, Mara, Radio, Francesca Clementina, De la Paz, Manuel Posada, Alonso García de la Rosa, F. Javier, Guerrini, Renzo, Chinnery, Patrick F., Schon, Katherine, Münchau, Alexander, Pauly, Martje, Toutain, Annick, Molin, Arnaud, Jouret, Béatrice, Laudier, Béatrice, Bonniaud, Bertille, Paul, Carle, Schaefer, Élise, Colin, Estelle, Prieur, Fabienne, Alessandri, Jean-Luc, Martinovic, Jelena, Lambert, Laëtitia, Bournez, Marie, Cordier-Alex, Marie-Pierre, Fradin, Mélanie, Hanna, Nadine, Chassaing, Nicolas, Naudion, Sophie, Cusin, Véronica

    Veröffentlicht in Genetics in medicine

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    Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry von Pizzamiglio, Chiara, Pitceathly, Robert D. S., Lunn, Michael P., Brady, Stefen, De Marchi, Fabiola, Galan, Lucia, Heckmann, Jeannine M., Horga, Alejandro, Molnar, Maria J., Oliveira, Acary S. B., Pinto, Wladimir B. V. R., Primiano, Guido, Santos, Ernestina, Schoser, Benedikt, Servidei, Serenella, Sgobbi Souza, Paulo V., Venugopalan, Vishnu, Hanna, Michael G., Dimachkie, Mazen M., Machado, Pedro M., Lim, Albert, Elsaddig, Amar, Juanatey, Ana, Romeiro, Ana, Themistocleous, Andreas, Kiss‐Csenki, Annamaria, Guerrero Sola, Antonio, Patil, Anuja, Duggal, Ashish, Gabriel, Carolyn, Marshall, Charles, Record, Christopher, Allen, Claire, Bearden, David, Rathna Sabapathi, DeviPriya, R, Dileep, Vecchio, Domizia, Newman, Edward, Eshun, Edwin, Foo, Eng C., Bugiardini, Enrico, Burke, Georgina, Ramdharry, Gita, Gorman, Gràinne S., Kumar, Guru, Sivasathiaseelan, Harri, Braga Farias, Igor, Smuts, Izelle, Holt, James, Groothuis, Jan T., Pritchard, Jane, Wall, Jasmine, Gamez, Josep, Shakthi, K. J. S., Wannop, Kate, Brennan, Kathryn, Saavedra, Lillian, Clayton, Lisa, Househam, Liz, Skorupinska, Mariola, Laura, Matilde, Ciocca, Matteo, Zosmer, Maya, Dhamne, Megha, Mancuso, Michelangelo, Janssen, Mirian, Musumeci, Olimpia, Price, Olivia, Chinnery, Patrick F., Ambrose, Philip, Mehta, Puja R., Thomas, Rhys H., Horvath, Rita, McFarland, Robert, Nortley, Ross, Paterson, Ross W., Geraldes, Ruth, Keh, Ryan, Neshuku, Saara, Sasidharan, Sandhya, Menon R, Sarath, Raga, Sharika, Rinaldi, Simon, Yareeda, Sireesha, Desai, Soaham, Ramaratnam, Sridharan, Keddie, Stephen, Watson‐Fargie, Taylor, Evangelista, Teresinha, Sansone, Valeria, Nesbitt, Victoria, Macken, William L., Oktay, Yavuz

    Veröffentlicht in European journal of neurology

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