학술논문
'학술논문'
에서 검색결과 109건 | 목록
20~30
Academic Journal
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoen, Peter A. C.'t; Vissers, Lisenka E. L. M.; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; LiÅ¡ková, Petra; Dolezalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueéas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; BaÅak, AyÅe Nazli; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Human Genomics. May 3, 2023, Vol. 17 Issue 1
Academic Journal
Lines, Matthew A.; Goldenberg, Paula; Wong, Ashley; Srivastava, Siddharth; Bayat, Allan; Hove, Hanne; Karstensen, Helena Gásdal; Anyane‐Yeboa, Kwame; Liao, Jun; Jiang, Nan; May, Alison; Guzman, Edwin; Morleo, Manuela; D'Arrigo, Stefano; Ciaccio, Claudia; Pantaleoni, Chiara; Castello, Raffaele; McKee, Shane; Ong, Jinfon; Zibdeh‐Lough, Hana
American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1667-1675, 9p
Academic Journal
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M.S.; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P.A.; Sinnema, Margje; Duynisveld, Irma
Academic Journal
Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel
Journal of Medical Genetics. 54(6)
Academic Journal
Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silvan, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, Maria; Rikeros, Emi; Ramos, Feliciano J.; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sanchez; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Mesa, Carmen Martin; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Dominguez; Seidel, Veronica; Suarez, Julia; Cormier-Daire, Valerie; SOGRI Consortium, Julian; Nevado, Julian; Lapunzina, Pablo
Academic Journal
Pasquetti, Domizia; L'Erario, Federica Francesca; Marangi, Giuseppe; Panfili, Arianna; Chiurazzi, Pietro; Sonnini, Elena; Orteschi, Daniela; Alfieri, Paolo; TUDP Study Grp, Vincenzo; Morleo, Manuela; Nigro, Vincenzo; Zollino, Marcella
Academic Journal
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Graefe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Bon, Bregje W. van; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marjia; McCabe, Brian D.; Rios, Paolo De Los; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A.
Academic Journal
Senatore, Emanuela; Chiuso, Francesco; Rinaldi, Laura; Intartaglia, Daniela; Delle Donne, Rossella; Pedone, Emilia; Catalanotti, Bruno; Pirone, Luciano; Fiorillo, Bianca; Moraca, Federica; Giamundo, Giuliana; Scala, Giovanni; Raffeiner, Andrea; Torres‐Quesada, Omar; Stefan, Eduard; Kwiatkowski, Marcel; van Pijkeren, Alienke; Morleo, Manuela; Franco, Brunella; Garbi, Corrado
Academic Journal
Morleo, Manuela; Brillante, Simona; Formisano, Umberto; Ferrante, Luigi; Carbone, Fabrizia; Iaconis, Daniela; Palma, Alessandro; Buonomo, Viviana; Maione, Angela Serena; Grumati, Paolo; Settembre, Carmine; Franco, Brunella
Academic Journal
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