Treffer 1 - 20 von 150 für Suche 'MILANO, JR.', Suchdauer: 1,72s Treffer weiter einschränken
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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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    Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study von Naito, Yumi, Cheng, Stephanie Y., Kashirskaya, Nataliya, de Monestrol, Isabelle, Naehrlich, Lutz, Jung, Andreas, Fernandes, Flavia Fonseca, Drali, Ouardia, Burghart, Sabine, Lakatos-Krepcik, Andrea, Kainz, Katharina, Leitner, Alexander, Stadlinger, Martin, Boboli, Hedwige, Knoop, Christiane, Pirson, Jessica, Van Hoorenbeeck, Kim, Filho, Eduardo Piacentini, Martins, Valéria de Carvalho, Monte, Luciana de Freitas Velloso, Bambir, Ivan, Macek, Milan, Olesen, Hanne Vebert, Fouda, Eman Mahmoud, Nasr, Samya, Weldetsadik, Abate Yeshidinber, Al-iede, Montaha, Abdrakhmanov, Olzhas, Abely, Michel, Bui, Stéphanie, Duet, Emmanuelle Coirier, Cosson, Laure, Deneuville, Eric, Dubus, Jean-Christophe, Gerardin, Michèle, Languepin, Jeanne, Mankikian, Julie, Marguet, Christophe, Mely, Laurent, Perisson, Caroline, Prevotat, Anne, Rames, Cinthia, Reix, Philippe, Rittie, Jean-Luc, Weiss, Laurence, Behl, Eva-Susanne, Heinzmann, Andrea, Herz, Alexander, Kiefer, Alexander, Kinder, Birte, Niehues, Tim, Rosenecker, Josef, Ruppel, Renate, Schropp, Christian, Schwarz, Carsten, Welzenbach, Britta, Manika, Katerina, Cox, Des, Elnazir, Basil, Fletcher, Godfrey, Gunaratnam, Cedric, Amato, Annalisa, Ferrari, Gianluca, Battistini, Fiorella, Bignamini, Elisabetta, Cimino, Giuseppe, Ficili, Francesca, Daccò, Valeria, Alghisi, Federico, Leonetti, Giuseppina, Pantano, Stefano, Raia, Valeria, Ros, Mirco, Francalanci, Michela, Charatsi, Anna-Maria, Heijerman, Harry, Danevska, Ivana Arnaudova, Maretti, Tatjana Jakovska, Fustik, Stojka, Wojsyk-Banaszak, Irena, Wozniacki, Lukasz, Gonçalves, Fabienne, Pereira, Luísa, Silva, Sónia, Aparicio, Marina Blanco, Labarga, Inés Herrero, de Vincente, Carlos Martin, Pastor, Maria Dolores, Pérez-Ruiz, Estela, Asensi, José R. Villa, Santiago, Veronica Sanz, Gilljam, Marita, Lindberg, Ulrika, Lindblad, Anders, Schuurmans, Macé, Walter, Anna-Lena, Ozcelik, Ugur, Asfuroğlu, Pelin, Aslan, Ayse Tana, Ozcan, Gizem

    Veröffentlicht in Journal of cystic fibrosis

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    Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von de Boer, Elke, Yaldiz, Burcu, Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, Laurie, Steve, Steyaert, Wouter, de Reuver, Rick, Gilissen, Christian, Kwint, Michael, Pfundt, Rolph, Verloes, Alain, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., Kleefstra, Tjitske, Vissers, Lisenka E.L.M., Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina


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