학술논문
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'학술논문'
에서 검색결과 314건 | 목록
1~20
Academic Journal
Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J. ; Duncan, Laura ; Jenkins, Zandra ; Carvill, Gemma L. ; DeWard, Stephanie J. ; Grange, Dorothy K. ; Hajianpour, MJ ; Halliday, Benjamin J. ; Holder-Espinasse, Muriel ; Horvath, Judit ; Maitz, Silvia ; Nigro, Vincenzo ; Morleo, Manuela ; Paul, Victoria ; Spencer, Careni ; Esterhuizen, Alina I. ; Polster, Tilman ; Spano, Alice ; Gómez-Lozano, Inés ; Kumar, Abhishek ; Poke, Gemma ; Phillips, John A., III ; Underhill, Hunter R. ; Gimenez, Gregory ; Namba, Takashi ; Robertson, Stephen P.
In The American Journal of Human Genetics 4 April 2024 111(4):729-741
Academic Journal
In Bioresource Technology Reports September 2022 19
Academic Journal
Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer ; Barat-Houari, Mouna ; Bargiacchi, Sara ; Biamino, Elisa ; Bralo, María Palomares ; Cappuccio, Gerarda ; Ciolfi, Andrea ; Clarke, Angus ; DuPont, Barbara R. ; Elting, Mariet W. ; Faivre, Laurence ; Fee, Timothy ; Fletcher, Robin S. ; Cherik, Florian ; Foroutan, Aidin ; Friez, Michael J. ; Gervasini, Cristina ; Haghshenas, Sadegheh ; Hilton, Benjamin A. ; Jenkins, Zandra ; Kaur, Simranpreet ; Lewis, Suzanne ; Louie, Raymond J. ; Maitz, Silvia ; Milani, Donatella ; Morgan, Angela T. ; Oegema, Renske ; Østergaard, Elsebet ; Pallares, Nathalie Ruiz ; Piccione, Maria ; Pizzi, Simone ; Plomp, Astrid S. ; Poulton, Cathryn ; Reilly, Jack ; Relator, Raissa ; Rius, Rocio ; Robertson, Stephen ; Rooney, Kathleen ; Rousseau, Justine ; Santen, Gijs W.E. ; Santos-Simarro, Fernando ; Schijns, Josephine ; Squeo, Gabriella Maria ; St John, Miya ; Thauvin-Robinet, Christel ; Traficante, Giovanna ; van der Sluijs, Pleuntje J. ; Vergano, Samantha A. ; Vos, Niels ; Walden, Kellie K. ; Azmanov, Dimitar ; Balci, Tugce ; Banka, Siddharth ; Gecz, Jozef ; Henneman, Peter ; Lee, Jennifer A. ; Mannens, Marcel M.A.M. ; Roscioli, Tony ; Siu, Victoria ; Amor, David J. ; Baynam, Gareth ; Bend, Eric G. ; Boycott, Kym ; Brunetti-Pierri, Nicola ; Campeau, Philippe M. ; Christodoulou, John ; Dyment, David ; Esber, Natacha ; Fahrner, Jill A. ; Fleming, Mark D. ; Genevieve, David ; Kerrnohan, Kristin D. ; McNeill, Alisdair ; Menke, Leonie A. ; Merla, Giuseppe ; Prontera, Paolo ; Rockman-Greenberg, Cheryl ; Schwartz, Charles ; Skinner, Steven A. ; Stevenson, Roger E. ; Vitobello, Antonio ; Tartaglia, Marco ; Alders, Marielle ; Tedder, Matthew L. ; Sadikovic, Bekim
In Human Genetics and Genomics Advances 13 January 2022 3(1)
Academic Journal
Kerkhof, Jennifer ; Squeo, Gabriella Maria ; McConkey, Haley ; Levy, Michael A. ; Piemontese, Maria Rosaria ; Castori, Marco ; Accadia, Maria ; Biamino, Elisa ; Della Monica, Matteo ; Di Giacomo, Marilena Carmela ; Gervasini, Cristina ; Maitz, Silvia ; Melis, Daniela ; Milani, Donatella ; Piccione, Maria ; Prontera, Paolo ; Selicorni, Angelo ; Sadikovic, Bekim ; Merla, Giuseppe
In Genetics in Medicine January 2022 24(1):51-60
Academic Journal
Troisi, Serena ; Maitz, Silvia ; Severino, Mariasavina ; Spano, Alice ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Torella, Annalaura ; Nigro, Vincenzo ; Tudp ; Bilo, Leonilda ; Coppola, Antonietta
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Torella, Annalaura ; Cappuccio, Gerarda ; Musacchia, Francesco ; Mutarelli, Margherita ; Carrella, Diego ; Vitiello, Giuseppina ; Parenti, Giancarlo ; Capra, Valeria ; Leuzzi, Vincenzo ; Selicorni, Angelo ; Maitz, Silvia ; Brunetti-Pierri, Nicola ; Banfi, Sandro ; Zollino, Marcella ; Montomoli, Martino ; Milani, Donatella ; Romano, Corrado ; Tummolo, Albina ; De Brasi, Daniele ; Coppola, Antonietta ; Santoro, Claudia ; Ciaccio, Claudia ; Duga, Valentina ; Pantaleoni, Chiara ; Esposito, Silvia ; Moroni, Isabella ; Pinelli, Michele ; Castello, Raffaele ; Nigro, Vincenzo ; Chiapparini, Luisa ; D'Arrigo, Stefano
In European Journal of Medical Genetics January 2021 64(1)
Academic Journal
Cappuccio, Gerarda ; Sayou, Camille ; Tanno, Pauline Le ; Tisserant, Emilie ; Bruel, Ange-Line ; Kennani, Sara El ; Sá, Joaquim ; Low, Karen J. ; Dias, Cristina ; Havlovicová, Markéta ; Hančárová, Miroslava ; Eichler, Evan E. ; Devillard, Françoise ; Moutton, Sébastien ; Van-Gils, Julien ; Dubourg, Christèle ; Odent, Sylvie ; Gerard, Bénédicte ; Piton, Amélie ; Yamamoto, Toshiyuki ; Okamoto, Nobuhiko ; Firth, Helen ; Metcalfe, Kay ; Moh, Anna ; Chapman, Kimberly A. ; Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Torella, Annalaura ; Nigro, Vincenzo ; Perrin, Laurence ; Piard, Juliette ; Le Guyader, Gwenaël ; Jouan, Thibaud ; Thauvin-Robinet, Christel ; Duffourd, Yannis ; George-Abraham, Jaya K. ; Buchanan, Catherine A. ; Williams, Denise ; Kini, Usha ; Wilson, Kate ; Brunetti-Pierri, Nicola ; Casari, Giorgio ; Pinelli, Michele ; Musacchia, Francesco ; Mutarelli, Margherita ; Carrella, Diego ; Vitiello, Giuseppina ; Capra, Valeria ; Parenti, Giancarlo ; Leuzzi, Vincenzo ; Selicorni, Angelo ; Maitz, Silvia ; Banfi, Sandro ; Zollino, Marcella ; Montomoli, Mario ; Milani, Donatelli ; Romano, Corrado ; Tummolo, Albina ; De Brasi, Daniele ; Coppola, Antonietta ; Santoro, Claudia ; Peron, Angela ; Pantaleoni, Chiara ; Castello, Raffaele ; D’Arrigo, Stefano ; Sousa, Sérgio B. ; Hennekam, Raoul C.M. ; Sadikovic, Bekim ; Thevenon, Julien ; Govin, Jérôme ; Vitobello, Antonio
In Genetics in Medicine November 2020 22(11):1838-1850
Academic Journal
Pangallo, Elisabetta ; Parma, Barbara ; Mariani, Milena ; Cianci, Paola ; De Paoli, Anita ; Maitz, Silvia ; Fossati, Chiara ; Panceri, Roberto ; Agosti, Massimo ; Selicorni, Angelo
In European Journal of Medical Genetics September 2020 63(9)
Academic Journal
Calì, Francesco ; Chiavetta, Valeria ; Ruggeri, Giuseppa ; Piccione, Maria ; Selicorni, Angelo ; Palazzo, Daniela ; Bonsignore, Maria ; Cereda, Anna ; Elia, Maurizio ; Failla, Pinella ; Figura, Maria Grazia ; Fiumara, Agata ; Maitz, Silvia ; Luana Mandarà, Giuseppa Maria ; Mattina, Teresa ; Ragalmuto, Alda ; Romano, Corrado ; Ruggieri, Martino ; Salluzzo, Roberto ; Saporoso, Antonino ; Schepis, Carmelo ; Sorge, Giovanni ; Spanò, Maria ; Tortorella, Gaetano ; Romano, Valentino
In European Journal of Medical Genetics February 2017 60(2):93-99
Academic Journal
Decimi, Valentina ; Fazio, Grazia ; Dell'Acqua, Fabiola ; Maitz, Silvia ; Galbiati, Marta ; Rizzari, Carmelo ; Biondi, Andrea ; Cazzaniga, Giovanni ; Selicorni, Angelo
In European Journal of Medical Genetics December 2016 59(12):634-640
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; Salvarinova, Ramona; Race, Simone; de Vries, Bert B.A.; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J. Austin; Putnam, Abbey M.; Person, Richard; Jamra, Rami Abou; Oppermann, Henry
In The American Journal of Human Genetics 4 December 2025 112(12):3046-3047
Academic Journal
Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsmaa, Emilia; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda; Sherr, Elliott; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre; van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette
Eur J Hum Genet
European Journal of Human Genetics, 33, 8, pp. 989-996
European Journal of Human Genetics, 33, 8, pp. 989-996
Academic Journal
Peron, Angela ; Alfano, Rosa Maria ; Moore, Barry ; Nellist, Mark ; Pedersen, Brent ; La Briola, Francesca ; Spaccini, Luigina ; Natacci, Federica ; Recalcati, Maria Paola ; Chiesa, Valentina ; Arancio, Rosangela ; Cavallari, Ugo ; Vannicola, Chiara ; Cefalo, Graziella ; Maitz, Silvia ; Bigoni, Stefania ; Gualandri, Lorenzo ; Gervasini, Cristina ; Veggiotti, Pierangelo ; van Ijcken, Wilfred ; Vignoli, Aglaia ; Bulfamante, Gaetano Pietro ; Carey, John ; Canevini, Maria Paola
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Boone, Philip ; Faour, Kamli ; Mohajeri, Kiana ; Lemanski, John ; Jana, Bimal ; Fu, Jack ; Kerkhof, Jennifer ; McConkey, Haley ; Collins, Ryan ; Lucente, Diane ; de Esch, Celine ; Moysés-Oliveira, Mariana ; Nuttle, Alexander ; Domingo, Aloysius ; Erdin, Serkan ; Hanley, Maris ; Watt, Amy ; Surette, Eric ; Lima, Gloria ; Smith, Laura ; Salani, Monica ; Yadav, Rachita ; Harripaul, Ricardo ; O’Keefe, Kathryn ; Burt, Nicholas ; Larson, Matthew ; Bhavsar, Riya ; Currall, Benjamin ; Sell, Susan ; Ladda, Roger ; Immken, LaDonna ; Buchanan, Catherine ; Yuan, Bo ; Lynch, Sally ; Gilissen, Christian ; Pfundt, Rolph ; Ockeloen, Charlotte ; Kleefstra, Tjitske ; Vanhoutte, Els ; Sinnema, Margje ; Stegmann, Sander ; Stevens, Servi ; Iascone, Maria ; Maitz, Silvia ; Cogne, Benjamin ; Le Caignec, Cedric ; Vincent, Marie ; Nizon, Mathilde ; Male, Alison ; Agrawal, Pankaj ; Thompson, Michelle ; Torring, Pernille ; Brasch-Andersen, Charlotte ; Faivre, Laurence ; Bruel, Ange-Line ; Isidor, Bertrand ; Philippe, Christophe ; Morleo, Manuela ; Wojcik, Monica ; Genetti, Casie ; Srivastava, Siddharth ; Ballal, Sonia ; Schließke, Sophia ; Jamra, Rami Abou ; Delahaye, Andree ; von Wintzingerode, Lydia ; Bothe, Viktoria ; Houlier, Marine ; Stout, Timothy ; Bergant, Gaber ; Peterlin, Borut ; Moldovan, Oana ; Martínez-Gil, Núria ; Argilli, Emanuela ; Sherr, Elliott ; Harel, Tamar ; Rosenberg-Fogler, Hallel ; Rosenfeld, Jill ; Wentzensen, Ingrid ; Westphal, Dominik ; Riedhammer, Korbinian ; Orec, Laura ; Gusella, James ; Sadikovic, Bekim ; Tai, Derek ; Talkowski, Michael
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Academic Journal
Ballarati, Lucia ; Cereda, Anna ; Caselli, Rossella ; Selicorni, Angelo ; Recalcati, Maria P. ; Maitz, Silvia ; Finelli, Palma ; Larizza, Lidia ; Giardino, Daniela
In European Journal of Medical Genetics 2011 54(1):55-59
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 ; Salvarinova, Ramona ; Race, Simone ; de Vries, Bert B.A. ; Trimouille, Aurélien ; Naudion, Sophie ; Marom, Daphna ; Hamiel, Uri ; Henig, Noa ; Demurger, Florence ; Rahner, Nils ; Bartels, Enrika ; Hamm, J. Austin ; Putnam, Abbey M. ; Person, Richard ; Abou Jamra, Rami ; Oppermann, Henry
In The American Journal of Human Genetics 5 May 2022 109(5):944-952
Academic Journal
Gervasini, Cristina ; Grati, Francesca Romana ; Lalatta, Faustina ; Tabano, Silvia ; Gentilin, Barbara ; Colapietro, Patrizia ; De Toffol, Simona ; Frontino, Giada ; Motta, Francesca ; Maitz, Silvia ; Bernardini, Laura ; Dallapiccola, Bruno ; Fedele, Luigi ; Larizza, Lidia ; Miozzo, Monica
In Genetics in Medicine October 2010 12(10):634-640
Academic Journal
Bestetti, Ilaria; Crippa, Milena; Sironi, Alessandra; Tumiatti, Francesca; Masciadri, Maura; Smeland, Marie Falkenberg; Naik, Swati; Murch, Oliver; Bonati, Maria Teresa; Spano, Alice; Cattaneo, Elisa; Mariani, Milena; Gotta, Fabio; Crosti, Francesca; Cavalli, Pietro; Pantaleoni, Chiara; Natacci, Federica; Bedeschi, Maria Francesca; Milani, Donatella; Maitz, Silvia
Academic Journal
Gillentine, Madelyn A.; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N.; De Vries, Bert B. A.; Vissers, Lisenka E. L. M.; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico
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