학술논문
'학술논문'
에서 검색결과 37건 | 목록
1~10
Academic Journal
Soldatos, Ariane; Nutman, Thomas B; Johnson, Tory; Dowell, Scott F; Sejvar, James J; Wilson, Michael R; DeRisi, Joseph L; Inati, Sara K; Groden, Catherine; Evans, Colleen; O'Connell, Elise M; Toliva, Bernard Opar; Aceng, Jane R; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A; Buckler, A Gretchen; Cantilena, Cathy; Palmore, Tara N; Thurm, Audrey; Baker, Eva H; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F; Lau, C Christopher; Malicdan, May Christine V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D; Gahl, William A; Nath, Avindra
Brain. 146(3)
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)
Periodical
Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p212-223, 12p
Academic Journal
Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Undiagnosed Diseases Network; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V
American journal of human genetics. 105(2)
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
Shanbhag, Niraj M; Geschwind, Michael D; DiGiovanna, John J; Groden, Catherine; Godfrey, Rena; Yousefzadeh, Matthew J; Wade, Erin A; Niedernhofer, Laura J; Malicdan, May Christine V; Kraemer, Kenneth H; Gahl, William A; Toro, Camilo
Neurology. Genetics. 4(3)
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
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; 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
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[AR] Malicdan, May Christine V
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