학술논문
'학술논문'
에서 검색결과 71건 | 목록
1~10
Academic Journal
Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D; Hennermann, Julia B; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean-Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne-Catherine; Avelar, Jennifer B; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean-Baptiste; DeArmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne-Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka; Mavroudakis, Nicolas; Mazurová, Stella; Mori, Madoka; Müller-Miny, Louisa; Musumeci, Olimpia; Nance, Christopher S; Natera-de Benito, Daniel; Neel, Robert; Niizawa, Gabriela A; Noll, Lauren; Ortega, Erik; Pasnoor, Mamatha; Pautot, Vivien; Potulska-Chromik, Anna; Pugliese, Alessia; Questienne, Claire; Ramos Lopes, Margarida; Reyes-Leiva, David; Riedl, Michaela; Rugiero, Marcelo Francisco; Salort-Campana, Emmanuelle; Sgobbi Souza, Paulo Victor; Sole, Guilhem; Solera, Luca; Souto Lopes, Suzara; Specht, Sabine; Statland, Jeffrey; Swenson, Andrea; Tan, Chong Yew; Tizon, Sónia; van der Beek, N A M E; van Kooten, Harmke A.; Wencel, Marie; Wenninger, Stephan; Zagnoli, Fabien; Diaz-Manera, Jordi ; Kishnani, Priya S ; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M ; Schoser, Benedikt
In The Lancet Neurology December 2021 20(12):1012-1026
Academic Journal
Korb, Manisha; Peck, Allison; Alfano, Lindsay N; Berger, Kenneth I; James, Meredith K; Ghoshal, Nupur; Healzer, Elise; Henchcliffe, Claire; Khan, Shaida; Mammen, Pradeep PA; Patel, Sujata; Pfeffer, Gerald; Ralston, Stuart H; Roy, Bhaskar; Seeley, William W; Swenson, Andrea; Mozaffar, Tahseen; Weihl, Conrad; Kimonis, Virginia; VCP Standards of Care Working Group
Orphanet journal of rare diseases. 17(1)
Academic Journal
Akyol, Mehmet Umut; Alden, Tord D; Amartino, Hernan; Ashworth, Jane; Belani, Kumar; Berger, Kenneth I; Borgo, Andrea; Braunlin, Elizabeth; Eto, Yoshikatsu; Gold, Jeffrey I; Jester, Andrea; Jones, Simon A; Karsli, Cengiz; Mackenzie, William; Marinho, Diane Ruschel; McFadyen, Andrew; McGill, Jim; Mitchell, John J; Muenzer, Joseph; Okuyama, Torayuki; Orchard, Paul J; Stevens, Bob; Thomas, Sophie; Walker, Robert; Wynn, Robert; Giugliani, Roberto; Harmatz, Paul; Hendriksz, Christian; Scarpa, Maurizio
Orphanet Journal of Rare Diseases. 14(1)
Academic Journal
Akyol, Mehmet Umut; Alden, Tord D; Amartino, Hernan; Ashworth, Jane; Belani, Kumar; Berger, Kenneth I; Borgo, Andrea; Braunlin, Elizabeth; Eto, Yoshikatsu; Gold, Jeffrey I; Jester, Andrea; Jones, Simon A; Karsli, Cengiz; Mackenzie, William; Marinho, Diane Ruschel; McFadyen, Andrew; McGill, Jim; Mitchell, John J; Muenzer, Joseph; Okuyama, Torayuki; Orchard, Paul J; Stevens, Bob; Thomas, Sophie; Walker, Robert; Wynn, Robert; Giugliani, Roberto; Harmatz, Paul; Hendriksz, Christian; Scarpa, Maurizio
Orphanet Journal of Rare Diseases. 14(1)
Academic Journal
Harmatz, Paul R; Mengel, Eugen; Geberhiwot, Tarekegn; Muschol, Nicole; Hendriksz, Christian J; Burton, Barbara K; Jameson, Elisabeth; Berger, Kenneth I; Jester, Andrea; Treadwell, Marsha; Sisic, Zlatko; Decker, Celeste
American Journal of Medical Genetics Part A. 173(2)
Academic Journal
Hendriksz, Christian J; Berger, Kenneth I; Parini, Rossella; AlSayed, Moeenaldeen D; Raiman, Julian; Giugliani, Roberto; Mitchell, John J; Burton, Barbara K; Guelbert, Norberto; Stewart, Fiona; Hughes, Derralynn A; Matousek, Robert; Jurecki, Elaina; Decker, Celeste; Harmatz, Paul R
Journal of Inherited Metabolic Disease. 39(6)
Academic Journal
Diaz-Manera, Jordi; Kishnani, Priya S; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem
Academic Journal
Burton, Barbara K; Berger, Kenneth I; Lewis, Gregory D; Tarnopolsky, Mark; Treadwell, Marsha; Mitchell, John J; Muschol, Nicole; Jones, Simon A; Sutton, V Reid; Pastores, Gregory M; Lau, Heather; Sparkes, Rebecca; Genter, Fred; Shaywitz, Adam J; Harmatz, Paul
American Journal of Medical Genetics Part A. 167(10)
Academic Journal
Hendriksz, Christian J; Berger, Kenneth I; Giugliani, Roberto; Harmatz, Paul; Kampmann, Christoph; Mackenzie, William G; Raiman, Julian; Villarreal, Martha Solano; Savarirayan, Ravi
American Journal of Medical Genetics Part A. 167(1)
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[AR] Berger, Kenneth I
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