학술논문
'학술논문'
에서 검색결과 795건 | 목록
1~10
Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, V; Leppig, KA; Lundgren, J; McDonald, MT; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660
Academic Journal
Sandra Donkervoort; Payam Mohassel; Melanie O'Leary; Devon E. Bonner; Taila Hartley; Nicole Acquaye; Astrid Brull; Tahseen Mozaffar; Mario A. Saporta; David A. Dyment; Jacinda B. Sampson; Sander Pajusalu; Christina Austin‐Tse; Kyle Hurth; Julie S. Cohen; Kirsty McWalter; Jodi Warman‐Chardon; Amy Crunk; A. Reghan Foley; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Academic Journal
Payam Mohassel; Pomi Yun; Safoora Syeda; Abhinandan Batra; Andrew J. Bradley; Sandra Donkervoort; Soledad Monges; Julie S. Cohen; Doris G. Leung; Francina Munell; Carlos Ortez; Angel Sánchez‐Montáñez; Peter Karachunski; John Brandsema; Livija Medne; Vinay Chaudhry; Giorgio Tasca; A. Reghan Foley; Bjarne Udd; Andrew E. Arai; Glenn A. Walter; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)
Academic Journal
Nagi, SS; Marshall, AG; Makdani, A; Jarocka, E; Liljencrantz, J; Ridderstrom, M; Shaikh, S; O'Neill, F; Saade, D; Donkervoort, S; Foley, AR; Minde, J; Trulsson, M; Cole, J; Bonnemann, CG; Chesler, AT; Bushnell, MC; McGlone, F; Olausson, H
Science advances. 5(7)
Academic Journal
Shashi, V; Magiera, MM; Klein, D; Zaki, M; Schoch, K; Rudnik-Schoneborn, S; Norman, A; Neto, OLA; Dusl, M; Yuan, XD; Bartesaghi, L; De Marco, P; Alfares, AA; Marom, R; Arold, ST; Guzman-Vega, FJ; Pena, LDM; Smith, EC; Steinlin, M; Babiker, MOE; Mohassel, P; Foley, AR; Donkervoort, S; Kaur, R; Ghosh, PS; Stanley, V; Musaev, D; Nava, C; Mignot, C; Keren, B; Scala, M; Tassano, E; Picco, P; Doneda, P; Fiorillo, C; Issa, MY; Alassiri, A; Alahmad, A; Gerard, A; Liu, PF; Yang, YP; Ertl-Wagner, B; Kranz, PG; Wentzensen, IM; Stucka, R; Stong, N; Allen, AS; Goldstein, DB; Schoser, B; Rosler, KM; Alfadhel, M; Capra, V; Chrast, R; Strom, TM; Kamsteeg, EJ; Bonnemann, CG; Gleeson, JG; Martini, R; Janke, C; Senderek, J
The EMBO journal. 37(23)
Academic Journal
R. J. Bowell; B. Clarkson; Amy Prestia; S. Thorne; Laura Donkervoort; J. Smith; J. Gear; J. Pennington; Ruth Griffiths; C. Kiel; D. Kimbal; G. Hawkins; P. Sandoval
Economic Geology and the Bulletin of the Society of Economic Geologists. 118(3):527-547
Academic Journal
Cremer, K.; Kloppenberg, F. W. H.; Vanhommerig, J. W.; Dijksman, L. M.; Bode, N.; Donkervoort, S. C.
Surgical Endoscopy: And Other Interventional Techniques. 36(7):5293-5302
Academic Journal
Schule, R; Siddique, T; Deng, HX; Yang, Y; Donkervoort, S; Hansson, M; Madrid, RE; Siddique, N; Schols, L; Bjorkhem, I
Journal of lipid research. 51(4):819-823
Academic Journal
Klockner, C; Sticht, H; Zacher, P; Popp, B; Babcock, HE; Bakker, DP; Barwick, K; Bonfert, MV; Bonnemann, CG; Brilstra, EH; Chung, WK; Clarke, AJ; Devine, P; Donkervoort, S; Fraser, JL; Friedman, J; Gates, A; Ghoumid, J; Hobson, E; Horvath, G; Keller-Ramey, J; Keren, B; Kurian, MA; Lee, VA; Leppig, KA; Lundgren, J; McDonald, MT; McLaughlin, HM; McTague, A; Mefford, HC; Mignot, C; Mikati, MA; Nava, C; Raymond, FL; Sampson, JR; Sanchis-Juan, A; Shashi, V; Shieh, JTC; Shinawi, M; Slavotinek, A; Stodberg, T; Stong, N; Sullivan, JA; Taylor, AC; Toler, TL; van den Boogaard, MJ; van der Crabben, SN; van Gassen, KLI; van Jaarsveld, RH; Van Ziffle, J; Wadley, AF; Wagner, M; Wigby, K; Wortmann, SB; Zarate, YA; Moller, RS; Lemke, JR; Platzer, K
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):796-796
Academic Journal
Sukhleen Kour; Deepa S. Rajan; Tyler R. Fortuna; Eric N. Anderson; Caroline Ward; Youngha Lee; Sangmoon Lee; Yong Beom Shin; Jong-Hee Chae; Murim Choi; Karine Siquier; Vincent Cantagrel; Jeanne Amiel; Elliot S. Stolerman; Sarah S. Barnett; Margot A. Cousin; Diana Castro; Kimberly McDonald; Brian Kirmse; Andrea H. Nemeth; Dhivyaa Rajasundaram; A. Micheil Innes; Danielle Lynch; Patrick Frosk; Abigail Collins; Melissa Gibbons; Michele Yang; Isabelle Desguerre; Nathalie Boddaert; Cyril Gitiaux; Siri Lynne Rydning; Kaja K. Selmer; Roser Urreizti; Alberto Garcia-Oguiza; Andrés Nascimento Osorio; Edgard Verdura; Aurora Pujol; Hannah R. McCurry; John E. Landers; Sameer Agnihotri; E. Corina Andriescu; Shade B. Moody; Chanika Phornphutkul; Maria J. Guillen Sacoto; Amber Begtrup; Henry Houlden; Janbernd Kirschner; David Schorling; Sabine Rudnik-Schöneborn; Tim M. Strom; Steffen Leiz; Kali Juliette; Randal Richardson; Ying Yang; Yuehua Zhang; Minghui Wang; Jia Wang; Xiaodong Wang; Konrad Platzer; Sandra Donkervoort; Carsten G. Bönnemann; Matias Wagner; Mahmoud Y. Issa; Hasnaa M. Elbendary; Valentina Stanley; Reza Maroofian; Joseph G. Gleeson; Maha S. Zaki; Jan Senderek; Udai Bhan Pandey
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
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