학술논문
'학술논문'
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1~10
Academic Journal
In Seminars in Fetal and Neonatal Medicine
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Li, Jiang; Choi, Byung; Eltawil, Yasmin; Ismail Mohamad, Noura; Matthews, Ian; Han, Jin; Kim, Bong; Sherr, Elliott; Chan, Dylan; Park, Yesai
JCI Insight. 8(24)
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien; Argilli, Emanuela
Journal of Medical Genetics. 60(10)
Academic Journal
Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian; Guerrini, Renzo; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela
American Journal of Human Genetics. 110(8)
Academic Journal
Slavotinek, Anne; Rego, Shannon; Sahin-Hodoglugil, Nuriye; Kvale, Mark; Lianoglou, Billie; Yip, Tiffany; Hoban, Hannah; Outram, Simon; Anguiano, Beatrice; Chen, Flavia; Michelson, Jeremy; Cilio, Roberta M; Curry, Cynthia; Gallagher, Renata C; Gardner, Marisa; Kuperman, Rachel; Mendelsohn, Bryce; Sherr, Elliott; Shieh, Joseph; Strober, Jonathan; Tam, Allison; Tenney, Jessica; Weiss, William; Whittle, Amy; Chin, Garrett; Faubel, Amanda; Prasad, Hannah; Mavura, Yusuph; Van Ziffle, Jessica; Devine, W Patrick; Hodoglugil, Ugur; Martin, Pierre-Marie; Sparks, Teresa N; Koenig, Barbara; Ackerman, Sara; Risch, Neil; Kwok, Pui-Yan; Norton, Mary E
npj Genomic Medicine. 8(1)
Academic Journal
Qian, Xuyu; DeGennaro, Ellen; Talukdar, Maya; Akula, Shyam; Lai, Abbe; Shao, Diane; Gonzalez, Dilenny; Marciano, Jack; Smith, Richard; Hylton, Norma; Yang, Edward; Bazan, J; Barrett, Lee; Yeh, Rebecca; Hill, R; Beck, Samantha; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish; Barnett, Christopher; Arts, Peer; Sherr, Elliott; Lupski, James; Walsh, Christopher; Argilli, Emanuela
Developmental Cell. 57(20)
Academic Journal
Holtz, Alexander; VanCoillie, Rachel; Vansickle, Elizabeth; Carere, Deanna; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Guillen Sacoto, Maria; Si, Yue; Wentzensen, Ingrid; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, André; Aldinger, Kimberly; Dobyns, William; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten; OHeir, Emily; Moody, Shade; Kim, Katherine; Burton, Barbara; Yoon, Grace; Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan; Gordon, Patricia; Prokop, Jeremy; Karaa, Amel; Bupp, Caleb; Raby, Benjamin; Sherr, Elliott; Argilli, Emanuela
Genetics in Medicine. 24(10)
Academic Journal
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Mau-them, Frederic Tran; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Mucca, Marion Aubert; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid MBH; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian HY; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian
Journal of Medical Genetics. 59(7)
Academic Journal
Pediatric Research. 91(4)
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