학술논문
'학술논문'
에서 검색결과 47건 | 목록
1~10
Academic Journal
Li, Shenglan; Zhao, Sen; Sinson, Jefferson C.; Bajic, Aleksandar; Rosenfeld, Jill A.; Neeley, Matthew B.; Pena, Mezthly; Worley, Kim C.; Burrage, Lindsay C.; Weisz-Hubshman, Monika; Ketkar, Shamika; Craigen, William J.; Clark, Gary D.; Lalani, Seema; Bacino, Carlos A.; Machol, Keren; Chao, Hsiao-Tuan; Potocki, Lorraine; Emrick, Lisa; Sheppard, Jennifer; Nguyen, My T.T.; Khoramnia, Anahita; Hernandez, Paula Patricia; Nagamani, Sandesh CS.; Liu, Zhandong; Eng, Christine M.; Lee, Brendan; Liu, Pengfei
In The American Journal of Human Genetics 2 May 2024 111(5):841-862
Academic Journal
Li, Niu; Xu, Yufei; Chen, Hongzhu; Lin, Jingqi; AlAbdi, Lama; Bekheirnia, Mir Reza; Li, Guoqiang; Gofin, Yoel; Bekheirnia, Nasim; Faqeih, Eissa; Chen, Lina; Chang, Guoying; Tang, Jie; Yao, Ruen; Yu, Tingting; Wang, Xiumin; Fu, Wei; Fu, Qihua; Shen, Yiping; Alkuraya, Fowzan S.; Machol, Keren; Wang, Jian
In eBioMedicine January 2024 99
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
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)
In The Journal of Pediatrics: Clinical Practice February 2024
Academic Journal
Walimbe, Ameya S.; Machol, Keren; Kralik, Stephen F.; Mizerik, Elizabeth A.; Gofin, Yoel; Bekheirnia, Mir Reza; Gijavanekar, Charul; Elsea, Sarah H.; Emrick, Lisa T.; Scaglia, Fernando
BMC Neurology. March 4, 2024, Vol. 24 Issue 1
Academic Journal
Snyder, Matthew T.; Manor, Joshua; Gijavanekar, Charul; Mizerik, Elizabeth; Kralik, Stephen F.; Elsea, Sarah H.; Machol, Keren; Emrick, Lisa; Scaglia, Fernando
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-6, 6p
Academic Journal
Walimbe, Ameya S.; Machol, Keren; Kralik, Stephen F.; Mizerik, Elizabeth A.; Gofin, Yoel; Bekheirnia, Mir Reza; Gijavanekar, Charul; Elsea, Sarah H.; Emrick, Lisa T.; Scaglia, Fernando
Academic Journal
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
Academic Journal
Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E.
Nature Communications. 14(1)
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