학술논문
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'학술논문'
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1~20
Academic Journal
Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias I.; Tsang, Stephen H.; Varsanyi, Balázs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne
Human Mutation. 43(7):832-858
Academic Journal
Ryan E. Schmidt; Amy E. Pohodich; David Birch; Kaylie Jones; Byron L. Lam; Emily H. Jung; Nieraj Jain; Michalis Georgiou; Omar A. Mahroo; Andrew R. Webster; Michel Michaelides; Benjamin Bakall; Alessandro Iannaccone; Ajoy Vincent; Deepika C. Parameswarappa; Elise Heon; Hendrik P. N. Scholl; Lucas Janeschitz-Kriegl; Elias I. Traboulsi; Wadih Zein; Brian P. Brooks; Catherine Cukras; Robert Hufnagel; Tomas S. Aleman; Mohamed M. Sylla; Stephen H. Tsang; Michelle Alabek; Jose Sahel; Michael B. Gorin; Maria M. van Genderen; Katarina Stingl; Milda Reith; Susanne Kohl; Rebeca Azevedo Souza Amaral; Juliana Maria Ferraz Sallum; Andrea L. Vincent; Sarah Hull; Jacque L. Duncan; James V. M. Hanson; Matthias Tedeus; Jordi Maggi; Urs Graf; Samuel Koller; Wolfgang Berger; Christina Gerth-Kahlert; Molly Marra; Lesley A. Everett; Paul Yang; Mark E. Pennesi
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)
Academic Journal
Wissinger, Bernd; Baumann, Britta; Buena-Atienza, Elena; Ravesh, Zeinab; Cideciyan, Artur V.; Stingl, Katarina; Audo, Isabelle; Meunier, Isabelle; Bocquet, Beatrice; Traboulsi, Elias I.; Hardcastle, Alison J.; Gardner, Jessica C.; Michaelides, Michel; Branham, Kari E.; Rosenberg, Thomas; Andreasson, Sten; Dollfus, Hélène; Birch, David; Vincent, Andrea L.; Martorell, Loreto; Mora, Jaume Català; Kellner, Ulrich; Rüther, Klaus; Lorenz, Birgit; Preising, Markus N.; Manfredini, Emanuela; Zarate, Yuri A.; Vijzelaar, Raymon; Zrenner, Eberhart; Jacobson, Samuel G.; Kohl, Susanne
Proceedings of the National Academy of Sciences of the United States of America, 2022 Jul 01. 119(27), 1-10.
Academic Journal
MESA Lung SPIROMICS investigators; Smith, Benjamin M.; Traboulsi, Hussein; Austin, John H. M.; Manichaikul, Ani; Hoffman, Eric A.; Bleecker, Eugene R.; Cardoso, Wellington V.; Cooper, Christopher; Couper, David J.; Dashnaw, Stephen M.; Guo, Jia; Han, MeiLan K.; Hansel, Nadia N.; Hughes, Emlyn W.; Jacobs, David R.; Kanner, Richard E.; Kaufman, Joel D.; Kleerup, Eric; Lin, Ching-Long; Liu, Kiang; Cascio, Christian M. Lo; Martinez, Fernando J.; Nguyen, Jennifer N.; Prince, Martin R.; Rennard, Stephen; Rich, Stephen S.; Simon, Leora; Sun, Yanping; Watson, Karol E.; Woodruff, Prescott G.; Baglole, Carolyn J.; Barr, R. Graham
Proceedings of the National Academy of Sciences of the United States of America, 2018 Jan . 115(5), E974-E981.
Academic Journal
Akiyama, Shintaro; Ollech, Jacob E.; Traboulsi, Cindy; Rai, Victoria; Glick, Laura R.; Yi, Yangtian; Runde, Joseph
Digestive Diseases and Sciences. August, 2022, Vol. 67 Issue 8, p4020, 12 p.
Academic Journal
Soukup J; Department of Pathology, Military University Hospital, U Vojenske nemocnice 1200, 6, 169 02, Prague, Czech Republic; Department of Pathology, Charles University, First Faculty of Medicine and General University Hospital in Prague, Studnickova 2039, Nové Mesto, 128 00, Prague, Czech Republic; The Fingerland Department of Pathology, Charles University, Faculty of Medicine in Hradec Králové and University Hospital, Sokolsk 581, 500 05, Hradec Kralove, Czech Republic. Electronic address: soukup.jiri@uvn.cz.; Traboulsi E; Department of Pathology, Military University Hospital, U Vojenske nemocnice 1200, 6, 169 02, Prague, Czech Republic.; Lopatova S; Department of Pathology, Military University Hospital, U Vojenske nemocnice 1200, 6, 169 02, Prague, Czech Republic.; Syrucek M; Department of Pathology, Na Homolce Hospital, Roentgenova 37/2, 150 30, Prague, 5, Prague, Czech Republic.; Koblizek M; Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, 150 06, 5, Prague, Czech Republic.; Hendrych M; First Department of Pathology, St. Anne's University Hospital and Faculty of Medicine Masaryk University, Pekarská 664/53, 602 00, Brno-stred, Brno, Czech Republic.; Svajdler M; Department of Pathology, Charles University, Faculty of Medicine in Pilsen, alej Svobody 923/80, 323 00, Pilsen, Czech Republic; Bioptical Laboratory, Ltd., Mikulášské nám. 4, 326 00, Pilsen, Czech Republic.; Sichova K; Department of Neurosurgery and Neurooncology, First Faculty of Medicine, Charles University and Military University Hospital, U Vojenske nemocnice 1200, 169 02, 6, Prague, Czech Republic.; May M; Department of Neurosurgery and Neurooncology, First Faculty of Medicine, Charles University and Military University Hospital, U Vojenske nemocnice 1200, 169 02, 6, Prague, Czech Republic.; Netuka D; Department of Neurosurgery and Neurooncology, First Faculty of Medicine, Charles University and Military University Hospital, U Vojenske nemocnice 1200, 169 02, 6, Prague, Czech Republic.
Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-8392 (Electronic) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE
Academic Journal
Thaddeus S. McClatchey, MD; Scott R. Lambert, MD; David G. Morrison, MD; Stacey J. Kruger, MD; Lorri B. Wilson, MD; Scott K. McClatchey, MD; Scott R. Lambert, MD (Study Chair); Lindreth DuBois, MEd, MMSc, CO, COMT (National Coordinator); Azhar Nizam, MS (Director); Qi Long, PhD (former Director); Michael J. Lynn, MS (former Director); Betsy Bridgman, BS; Marianne Celano, PhD; Julia Cleveland, MS; George Cotsonis, MS; Carey Drews-Botsch, PhD; Nana Freret, MSN; Lu Lu, MS; Seegar Swanson; Thandeka Tutu-Gxashe, MPH; E. Eugenie Hartmann, PhD (Director); Anna K. Carrigan, MPH; Clara Edwards; Claudio Busettini, PhD; Samuel Hayley; Eleanor Lewis; Alicia Kindred Joost Felius, PhD; Edward G. Buckley, MD; David A. Plager, MD; M. Edward Wilson, MD; Lindreth DuBois, MEd, MMSc; Carolyn Drews-Botsch, PhD; E. Eugenie Hartmann, PhD; Donald F. Everett, MA; Michael J. Lynn, MS; Qi Long, PhD; Azhar Nizam, MS; Joost Felius, PhD; Margaret Bozic, CCRC, COA; Ann Holleschau, BA; Buddy Russell, COMT; Michael Ward; Carol Bradham, COA; Deborah K. Vanderveen, MD; Theresa A. Mansfield, RN; Kathryn Bisceglia Miller, OD; Tamar Winter, RN; Stephen P. Christiansen, MD; Erick D. Bothun, MD; Jason Jedlicka, OD; Patricia Winters, OD; Jacob Lang, OD; Jill S. Anderson, MD; Elias I. Traboulsi, MD; Susan Crowe, BS, COT; Heather Hasley Cimino, OD; Faruk Orge, MD; Megin Kwiatkowski; Beth Colon; Angela Meador, COA, MHA; Kimberly G. Yen, MD; Maria Castanes, MPH; Alma Sanchez, COA; Shirley York, OD; Stacy Malone, COA; Margaret Olfson; Gihan Romany, MBChB, COMT, CCRC; David T. Wheeler, MD; Ann U. Stout, MD; Paula Rauch, OT, CRC; Kimberly Beaudet, CO, COMT; Pam Berg, CO, COMT; Lorri Wilson, MD; Amy K. Hutchinson, MD; Lindreth Dubois, MEd, MMSc, CO, COMT; Rachel Robb, MMSc, CO, COMT; Marla J. Shainberg, CO; Sharon F. Freedman, MD; Lois Duncan, BS, CO, COMT; B.W. Phillips, FCLSA; John T. Petrowski, OD; Sarah Jones, MS; David Morrison, MD; Sandy Owings, COA, CCRP; Ron Biernacki, CO, COMT; Christine Franklin, COT; Scott Ruark; Daniel E. Neely, MD; Michele Whitaker, COMT, CCRP; Donna Bates, COA; Dana Donaldson, OD; Stacey Kruger, MD; Charlotte Tibi, CO; Susan Vega; David R. Weakley, MD; David R. Stager, Jr., M.D.; Clare Dias, CO; Debra L. Sager; Todd Brantley, OD; Bonnie Miller, PhD; Eva Lutz, CO; Lisa Davis; Robert Hardy, PHD (Chair); Eileen Birch, PhD; Ken Cheng, MD; Richard Hertle, MD; Craig Kollman, PhD; Marshalyn Yeargin-Allsopp, MD (resigned); Cyd McDowell; Allen Beck, MD
Ophthalmology Science, Vol 2, Iss 4, Pp 100208- (2022)
Academic Journal
Rai, Victoria; Traboulsi, Cindy; Silfen, Alexa; Ackerman, Max T.; Erondu, Amarachi I.; Karpin, Jordan E.; Gulotta, George; Rubin, David T.
Crohn's & Colitis 360. July, 2021, Vol. 3 Issue 3
Academic Journal
Ervin, A-M; Strauss, RW; Ahmed, M; Birch, D; Cheetham, J; Ferris, FL; Ip, MS; Jaffe, GJ; Maguire, MG; Schonbach, EM; Sadda, SR; West, SK; Scholl, HPN; Wolfson, Y; Bittencourt, M; Shah, SM; Schonbach, E; Fujinami, K; Traboulsi, E; Ehlers, J; Marino, M; Crowe, S; Briggs, R; Borer, A; Pinter, A; Burgnoni, TFN; Sunness, JS; Applegate, C; Russell, L; Michaelides, M; Degli Esposti, S; Webster, AMA; Connor, S; Barnfield, J; Salchi, Z; Alfageme, C; Pefkianaki, VMM; Pefkianaki, M; Aboshiha, J; Holder, GLG; Robson, A; King, A; Narvaez, DIC; Barnard, K; Grigg, C; Dunbar, H; Girard-Claudon, YOK; Swann, H; Rughani, A; Amoah, C; Bibi, DCK; Co, ET; Begum, MNIH; Carter, A; Georgiou, A; Lewism, S; Shaheen, S; Shinmar, H; Burton, L; Bernstein, P; Wegner, K; Sawyer, BL; Carlstrom, B; Farnsworth, K; Fry, C; Chandler, M; Jenkins, G; Creel, D; Wang, Y-Z; Rodriguez, L; Locke, K; Klein, M; Mejia, P; Cideciyan, A; Jacobson, SG; Schwartz, SB; Matsui, R; Gruzensky, M; Charng, J; Roman, AJ; Zrenner, E; Nasser, F; Hahn, GA; Wilhelm, B; Peters, T; Beier, B; Koenig, T; Kramer, S; Sahel, J-A; Mohand-Said, S; Audo, I; Laurent-Coriat, C; Sliesoraityte, I; Zeitz, C; Boyard, F; Minh, HT; Chapon, M; Chaumette, C; Amaudruz, J; Ganem, V; Sancho, S; Girmens, A; Wojciechowski, R; Khan, S; Emmert, DG; Cain, D; Herring, M; Bassinger, J; Liberto, L; West, S; Munoz, B; Kong, X; Dreger, K; Jones, J; Sadda, S; Jha, A; Ho, A; Kramer, B; Lam, N; Tawdros, R; Zhou, YD; Carmona, J; Uji, A; Hariri, A; Lock, A; Elshafei, A; Ganegoda, A; Petrossian, C; Jenkins, D; Strnad, E; Baghdasaryan, E; Ito, E; Samson, F; Blanquel, G; Akil, H; Melendez, J; Lei, J; Huang, J; Chau, J; Falavarjani, KG; Espino, K; Li, M; Mendoza, M; Nittala, MG; Roded, N; Saleh, N; Huang, P; Pitetta, S; Balasubramanian, S; Leahy, S; Srinivas, SJ; Velaga, SB; Margaryan, T; Tepelus, T; Brown, T; Fan, W; Murillo, Y; Shi, Y; Aguilar, K; Chan, C; Santos, L; Seo, B; Sison, C; Perez, S; Chao, S; Miyasato, K; Higgins, J; Luna, Z; Menchaca, A; Gonzalez, N; Robledo, V; Carig, K; Baker, K; Ellenbogen, D; Bluemel, D; Sanford, T; Linares, D; Mei, T; Nava, L; Oberoi, M; Romero, M; Chiguil, V; Bynum-Bain, G; Kim, M; Mendiguren, C; Huang, X; Smith, M
Academic Journal
Meeker, Jessica R.; Gosdin, Lucas; Siu, Allison; Turner, Lauren; Zusman, Benjamin D.; Sadigh, Katrin S.; Carpenter, Robert; Dopson, Stephanie; Saindon, John; Kyaw, Nang Thu Thu; Segaloff, Hannah E.; Pritchard, Nikki; Shahum, Andrea; Traboulsi, Rana; Worrell, Mary Claire; Beaucham, Catherine; Gandhi, Pritesh; Winslow, Dean L.; Rotz, Lisa; Talley, Leisel; Mosites, Emily; Boyd, Andrew T.
Academic Journal
Sergouniotis, P.I.; Maxime, E.; Leroux, D.; Olry, A.; Thompson, R.; Rath, A.; Robinson, P.N.; Dollfus, H.; Ashworth, J.L.; Audo, I.; Balciuniene, V.J.; Banin, E.; Black, G.C.; Bohringer, D.; Boon, C.J.F.; Bremond-Gignac, D.; Calvas, P.; Castela, G.; Dagnelie, G.; Downes, S.M.; Fasolo, A.; Fasser, C.; Gelzinis, A.; Goetz, K.; Hamann, S.; Heon, E.; Iarossi, G.; Kawasaki, A.; Keegan, D.; Kessel, L.; Khan, K.; Klett, A.; Kohler, S.; Leroy, B.P.; Lisch, W.; Liskova, P.; Lorenz, B.; Maggi, R.; Meunier, I.; Mohand-Said, S.; Nowomiejska, K.; Perdomo, Y.; Petzold, A.; Preising, M.; Scholl, H.P.N.; Sodi, A.; Stingl, K.; Studer, F.; Suppiej, A.; Touitou, V.; Traboulsi, E.; Trumpaitis, J.; Tuft, S.J.; Vaclavik, V.; Valeina, S.; Cauwenbergh, C. van; Verloes, A.; Vighetto, A.; Wheeler, R.; Wheeler-Schilling, T.; Yu-Wai-Man, P.; Zobor, D.; Zrenner, E.; ERN-EYE Ontology Study Grp
Academic Journal
Sergouniotis, Panagiotis I.; Maxime, Emmanuel; Leroux, Dorothée; Olry, Annie; Thompson, Rachel; Rath, Ana; Robinson, Peter N.; Dollfus; HélèneAshworth JL; Audo I; Balciuniene VJ; Banin E; Black GC; Böhringer D; Boon CJF; Bremond-Gignac D; Calvas P; Castela G; Dagnelie G; Dollfus H; Downes SM; Fasolo A; Fasser C; Gelzinis A; Goetz K; Hamann S; Héon E; Iarossi G; Kawasaki A; Keegan D; Kessel L; Khan K; Klett A; Köhler S; Leroux D; Leroy BP; Lisch W; Liskova P; Lorenz B; Maggi R; Maxime E; Meunier I; Mohand-Said S; Nowomiejska K; Perdomo Y; Petzold A; Preising M; Robinson PN; Scholl HPN; Sergouniotis PI; Sodi A; Stingl K; Studer F; Suppiej A; Thompson R; Touitou V; Traboulsi E; Trumpaitis J; Tuft SJ; Vaclavik V; Valeina S; Van Cauwenbergh C; Verloes A; Vighetto A; Wheeler R; Wheeler-Schilling T; Yu-Wai-Man P; Zobor D; Zrenner E.
Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime,E , Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6
ERN-EYE Ontology Study Group 2019, 'An ontological foundation for ocular phenotypes and rare eye diseases', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8. https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime,
ERN-EYE Ontology Study Group 2019, 'An ontological foundation for ocular phenotypes and rare eye diseases', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8. https://doi.org/10.1186/s13023-018-0980-6
Academic Journal
Kramoh, K.E. ; N’Goran, Y.N.K.; Aké-Traboulsi, E.; Konin, K.C.; Boka, B.C.; Koffi, D.B.J.; Sow, T.M.; Mandah, Y.C.; Kakou-Guikahue, M.
In Annales de cardiologie et d'angeiologie February 2013 62(1):34-37
Academic Journal
Schönbach, EM; Strauss, RW; Kong, X; Muñoz, B; Ibrahim, MA; Sunness, JS; Birch, DG; Hahn, GA; Nasser, F; Zrenner, E; Sadda, SVR; West, SK; Scholl, HPN; Wolfson, Y; Bittencourt, M; Shah, SM; Ahmed, M; Schönbach, E; Fujinami, K; Traboulsi, E; Ehlers, J; Marino, M; Crowe, S; Briggs, R; Borer, A; Pinter, A; Fecko, T; Burgnoni, N; Applegate, C; Russell, L; Michaelides, M; Esposti, SD; Moore, A; Webster, A; Connor, S; Barnfield, J; Salchi, Z; Alfageme, C; McCudden, V; Pefkianaki, M; Aboshiha, J; Liew, G; Holder, G; Robson, A; King, A; Narvaez, DIC; Barnard, K; Grigg, C; Dunbar, H; Obadeyi, Y; Girard-Claudon, K; Swann, H; Rughani, A; Amoah, C; Carrington, D; Bibi, K; Co, ET; Illiyas, MN; Begum, H; Carter, A; Georgiou, A; Lewism, S; Shaheen, S; Shinmar, H; Burton, L; Bernstein, P; Wegner, K; Sawyer, BL; Carlstrom, B; Farnsworth, K; Fry, C; Chandler, M; Jenkins, G; Creel, D; Birch, D; Wang, YZ; Rodriguez, L; Locke, K; Klein, M; Mejia, P; Cideciyan, AV; Jacobson, SG; Schwartz, SB; Matsui, R; Gruzensky, M; Charng, J; Roman, AJ
Academic Journal
Karpin, Jordan E.; Rodriguez, Tina G.; Traboulsi, Cindy; Rai, Victoria; Gibbons, Robert D.; Rubin, David T.
Crohn's & Colitis 360. January, 2021, Vol. 3 Issue 1
Academic Journal
Silva, E.; Dharmaraj, S.; Li, Y.Y.; Pina, A.L.; Carter, R.C.; Loyer, M.; Traboulsi, E.; Theodossiadis, G.; Koenekoop, R.K.; Sundin, O.H.; Maumenee, I.H.
Ophthalmic Genetics. 25:205-217
Academic Journal
Parikh, V; Shugart, YY; Doheny, KF; Zhang, J; Li, L; Williams, J; Hayden, D; Craig, B; Capo, H; Chamblee, D; Chen, C; Collins, M; Dankner, S; Fiergang, D; Guyton, D; Hunter, D; Hutcheon, M; Keys, M; Morrison, N; Munoz, M; Parks, M; Plotsky, D; Protzko, E; Repka, MX; Sarubbi, M; Schnall, B; Siatkowski, RM; Traboulsi, E; Waeltermann, J; Nathans, J
Proceedings of the National Academy of Sciences. 100:12283-12288
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