학술논문
'학술논문'
에서 검색결과 176건 | 목록
20~30
Academic Journal
Pizzino, Amy; Pierson, Tyler Mark; Guo, Yiran; Helman, Guy; Fortini, Sebastian; Guerrero, Kether; Saitta, Sulagna; Murphy, Jennifer Louise Patrick; Padiath, Quasar; Xie, Yi; Hakonarson, Hakon; Xu, Xun; Funari, Tara; Fox, Michelle; Taft, Ryan J; van der Knaap, Marjo S; Bernard, Geneviève; Schiffmann, Raphael; Simons, Cas; Vanderver, Adeline
Neurology. 83(10)
Periodical
Helman, Guy; Mendes, Marisa I.; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E.C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Brösse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Geneviève; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2352-2359, 8p
Academic Journal
Helman, Guy; Viaene, Angela N.; Takanohashi, Asako; Breur, Marjolein; Berger, Rebecca; Woidill, Sarah; Cottrell, John R.; Schiffmann, Raphael; Crow, Yanick J.; Simons, Cas; Bugiani, Marianna; Vanderver, Adeline
Academic Journal
Helman, Guy; Compton, Alison G.; Hock, Daniella H.; Walkiewicz, Marzena; Brett, Gemma R.; Pais, Lynn; Tan, Tiong Y.; De Paoli‐Iseppi, Ricardo; Clark, Michael B.; Christodoulou, John; White, Susan M.; Thorburn, David R.; Stroud, David A.; Stark, Zornitza; Simons, Cas
Human Mutation; Jan2021, Vol. 42 Issue 1, p19-24, 6p
Academic Journal
Vanderver, Adeline; Adang, Laura; Shults, Justine; Gavazzi, Francesco; McDonald, Katherine; Helman, Guy; Frank, David B; Jaffe, Nicole; Yum, Sabrina W; Collins, Abigail; Keller, Stephanie R; Lebon, Pierre; Meritet, Jean-François; Rhee, Jullie; Takanohashi, Asako; Armangue, Thais; Ulrick, Nicole; Sherbini, Omar; Koh, Jamie; Peer, Kyle
Academic Journal
Vanderver, Adeline; Bernard, Geneviève; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie L.; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, Sheel; Sherr, Elliott; Haren, Keith
Academic Journal
Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; Vanderver, Adeline; Simons, Cas
Human Mutation; Jun2020, Vol. 41 Issue 6, p1131-1137, 7p
Academic Journal
Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J
Human Molecular Genetics; 5/1/2020, Vol. 29 Issue 9, p1568-1579, 12p
Academic Journal
Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.
Academic Journal
Yan, Huifang; Helman, Guy; Murthy, Swetha E.; Ji, Haoran; Crawford, Joanna; Kubisiak, Thomas; Bent, Stephen J.; Xiao, Jiangxi; Taft, Ryan J.; Coombs, Adam; Wu, Ye; Pop, Ana; Li, Dongxiao; de Vries, Linda S.; Jiang, Yuwu; Salomons, Gajja S.; van der Knaap, Marjo S.; Patapoutian, Ardem; Simons, Cas; Burmeister, Margit
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[AR] Helman, Guy
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