학술논문
'학술논문'
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1~10
Academic Journal
Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M; Murphy, Jennifer L; Acosta, Maria T; Wang, Camille; Alderman, Emily; Reichert, Sara; Thurm, Audrey; Adams, David R; Introne, Wendy J; Gorski, Sharon M; Boerkoel, Cornelius F; Gahl, William A; Tifft, Cynthia J; Malicdan, May Christine V
npj Genomic Medicine. 8(1)
Academic Journal
Beck, David B; Basar, Mohammed A; Asmar, Anthony J; Thompson, Joyce J; Oda, Hirotsugu; Uehara, Daniela T; Saida, Ken; Pajusalu, Sander; Talvik, Inga; D’Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Barañano, Kristin W; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Tamada, Tomoko; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johji; Walkiewicz, Magdalena; Õunap, Katrin; Tifft, Cynthia J; Aksentijevich, Ivona; Kastner, Daniel L; Rocha, Pedro P; Werner, Achim
Science Advances. 7(4)
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Academic Journal
Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Undiagnosed Diseases Network; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J
Human mutation. 40(5)
Academic Journal
Otero, Maria G; Tiongson, Emmanuelle; Diaz, Frank; Haude, Katrina; Panzer, Karin; Collier, Ashley; Kim, Jaemin; Adams, David; Tifft, Cynthia J; Cui, Hong; Zamora, Francisca Millian; Au, Margaret G; Graham, John M; Buckley, David J; Lewis, Richard; Toro, Camilo; Bai, Renkui; Turner, Lesley; Mathews, Katherine D; Gahl, William; Pierson, Tyler Mark
Annals of Clinical and Translational Neurology. 6(1)
Academic Journal
Splinter, Kimberly; Adams, David R; Bacino, Carlos A; Bellen, Hugo J; Bernstein, Jonathan A; Cheatle-Jarvela, Alys M; Eng, Christine M; Esteves, Cecilia; Gahl, William A; Hamid, Rizwan; Jacob, Howard J; Kikani, Bijal; Koeller, David M; Kohane, Isaac S; Lee, Brendan H; Loscalzo, Joseph; Luo, Xi; McCray, Alexa T; Metz, Thomas O; Mulvihill, John J; Nelson, Stanley F; Palmer, Christina GS; Phillips, John A; Pick, Leslie; Postlethwait, John H; Reuter, Chloe; Shashi, Vandana; Sweetser, David A; Tifft, Cynthia J; Walley, Nicole M; Wangler, Michael F; Westerfield, Monte; Wheeler, Matthew T; Wise, Anastasia L; Worthey, Elizabeth A; Yamamoto, Shinya; Ashley, Euan A
New England Journal of Medicine. 379(22)
Academic Journal
Pierson, Tyler Mark; Yuan, Hongjie; Marsh, Eric D; Fuentes-Fajardo, Karin; Adams, David R; Markello, Thomas; Golas, Gretchen; Simeonov, Dimitre R; Holloman, Conisha; Tankovic, Anel; Karamchandani, Manish M; Schreiber, John M; Mullikin, James C; Tifft, Cynthia J; Toro, Camilo; Boerkoel, Cornelius F; Traynelis, Stephen F; Gahl, William A
Annals of Clinical and Translational Neurology. 1(3)
Academic Journal
Lim, Young H; Ovejero, Diana; Sugarman, Jeffrey S; Deklotz, Cynthia MC; Maruri, Ann; Eichenfield, Lawrence F; Kelley, Patrick K; Jüppner, Harald; Gottschalk, Michael; Tifft, Cynthia J; Gafni, Rachel I; Boyce, Alison M; Cowen, Edward W; Bhattacharyya, Nisan; Guthrie, Lori C; Gahl, William A; Golas, Gretchen; Loring, Erin C; Overton, John D; Mane, Shrikant M; Lifton, Richard P; Levy, Moise L; Collins, Michael T; Choate, Keith A
Human molecular genetics. 23(2)
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
Periodical
Daich Varela, Malena; Zein, Wadih M; Toro, Camilo; Groden, Catherine; Johnston, Jean; Huryn, Laryssa A; d’Azzo, Alessandra; Tifft, Cynthia J; FitzGibbon, Edmond J
British Journal of Ophthalmology; 2021, Vol. 105 Issue: 6 p838-843, 6p
Academic Journal
Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan, Francisca; Chung, Wendy K
Journal of Medical Genetics. Feb 01, 2017 54(2):84-86
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[AR] Tifft, Cynthia J
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