학술논문
'학술논문'
에서 검색결과 137건 | 목록
20~30
Academic Journal
Zhang, Yihan; Huang, Haigen; Zhao, Gexin; Yokoyama, Tadafumi; Vega, Hugo; Huang, Yan; Sood, Raman; Bishop, Kevin; Maduro, Valerie; Accardi, John; Toro, Camilo; Boerkoel, Cornelius F; Lyons, Karen; Gahl, William A; Duan, Xiaohong; Malicdan, May Christine V; Lin, Shuo
PLoS genetics. 13(2)
Academic Journal
Lam, Christina; Ferreira, Carlos; Krasnewich, Donna; Toro, Camilo; Latham, Lea; Zein, Wadih M; Lehky, Tanya; Brewer, Carmen; Baker, Eva H; Thurm, Audrey; Farmer, Cristan A; Rosenzweig, Sergio D; Lyons, Jonathan J; Schreiber, John M; Gropman, Andrea; Lingala, Shilpa; Ghany, Marc G; Solomon, Beth; Macnamara, Ellen; Davids, Mariska; Stratakis, Constantine A; Kimonis, Virginia; Gahl, William A; Wolfe, Lynne
Genetics in Medicine. 19(2)
Academic Journal
Iwata, Fumino; Reed, George F; Caruso, Rafael C; Kuehl, Ernest M; Gahl, William A; Kaiser-Kupfer, Muriel I
In Ophthalmology 2000 107(4):783-789
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito‐Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez‐Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Genomics, University of Washington Center for Mendelian; Matthijs, Gert; Freeze, Hudson H
Human Mutation. 37(7)
Academic Journal
Links, Amanda E; Draper, David; Lee, Elizabeth; Guzman, Jessica; Valivullah, Zaheer; Maduro, Valerie; Lebedev, Vlad; Didenko, Maxim; Tomlin, Garrick; Brudno, Michael; Girdea, Marta; Dumitriu, Sergiu; Haendel, Melissa A; Mungall, Christopher J; Smedley, Damian; Hochheiser, Harry; Arnold, Andrew M; Coessens, Bert; Verhoeven, Steven; Bone, William; Adams, David; Boerkoel, Cornelius F; Gahl, William A; Sincan, Murat
Frontiers in Medicine. 3(OCT)
Academic Journal
Janecke, Andreas R; Li, Ben; Boehm, Manfred; Krabichler, Birgit; Rohrbach, Marianne; Müller, Thomas; Fuchs, Irene; Golas, Gretchen; Katagiri, Yasuhiro; Ziegler, Shira G; Gahl, William A; Wilnai, Yael; Zoppi, Nicoletta; Geller, Herbert M; Giunta, Cecilia; Slavotinek, Anne; Steinmann, Beat
American Journal of Medical Genetics Part A. 170(1)
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Academic Journal
Ferreira, Carlos R; Kintzinger, Kristina; Hackbarth, Mary E; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A; Gafni, Rachel I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank
Journal of Bone & Mineral Research; Nov2021, Vol. 36 Issue 11, p2193-2202, 10p
Academic Journal
Lam, Christina; Golas, Gretchen A; Davids, Mariska; Huizing, Marjan; Kane, Megan S; Krasnewich, Donna M; Malicdan, May Christine V; Adams, David R; Markello, Thomas C; Zein, Wadih M; Gropman, Andrea L; Lodish, Maya B; Stratakis, Constantine A; Maric, Irina; Rosenzweig, Sergio D; Baker, Eva H; Ferreira, Carlos R; Danylchuk, Noelle R; Kahler, Stephen; Garnica, Adolfo D; Schaefer, G Bradley; Boerkoel, Cornelius F; Gahl, William A; Wolfe, Lynne A
Molecular Genetics and Metabolism. 115(2-3)
Periodical
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 11 p1104-1115, 12p
Periodical
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p865-877, 13p
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[AR] Gahl, William A
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