학술논문
'학술논문'
에서 검색결과 127건 | 목록
20~30
Academic Journal
Ritter, Alyssa; Bedoukian, Emma; Berger, Justin H.; Copenheaver, Deborah; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Juusola, Jane; Leonard, Jacqueline; Lin, Kimberly; Medne, Livija; Santani, Avni; Skraban, Cara; Yang, Sandra; Ahrens-Nicklas, Rebecca C.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(2):423-426
Academic Journal
Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2755-2764
Academic Journal
Okur, Volkan; Cho, Megan T.; van Wijk, Richard; van Oirschot, Brigitte; Picker, Jonathan; Coury, Stephanie A.; Grange, Dorothy; Manwaring, Linda; Krantz, Ian; Muraresku, Colleen Clark; Hulick, Peter J.; May, Holley; Pierce, Eric; Place, Emily; Bujakowska, Kinga; Telegrafi, Aida; Douglas, Ganka; Monaghan, Kristin G.; Begtrup, Amber; Wilson, Ashley; Retterer, Kyle; Anyane-Yeboa, Kwame; Chung, Wendy K.
European Journal of Human Genetics. 27(7):1081-1089
Periodical
Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Conlin, Laura; Monos, Dimitri; Sarmady, Mahdi; Marsh, Eric; Zackai, Elaine; Spinner, Nancy; Krantz, Ian; Deardorff, Matt; Santani, Avni
Genetics in Medicine; March 2018, Vol. 20 Issue: 3 p329-336, 8p
Molecular characterization of HDAC8deletions in individuals with atypical Cornelia de Lange syndrome
Periodical
Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christian P.; del Gaudio, Daniela
Journal of Human Genetics; March 2018, Vol. 63 Issue: 3 p349-356, 8p
Periodical
Han, Paul K.J.; Umstead, Kendall L.; Bernhardt, Barbara A.; Green, Robert C.; Joffe, Steven; Koenig, Barbara; Krantz, Ian; Waterston, Leo B.; Biesecker, Leslie G.; Biesecker, Barbara B.
Genetics in Medicine; August 2017, Vol. 19 Issue: 8 p918-925, 8p
Academic Journal
Strong, Alanna; Li, Dong; Mentch, Frank; Bedoukian, Emma; Hartung, Erum A.; Meyers, Kevin; Skraban, Cara; Wen, Jessica; Medne, Livija; Glessner, Joseph; Watson, Deborah; Krantz, Ian; Hakonarson, Hakon
Academic Journal
DiStefano, Marina T.; Hemphill, Sarah E.; Oza, Andrea M.; Siegert, Rebecca K.; Grant, Andrew R.; Hughes, Madeline Y.; Cushman, Brandon J.; Azaiez, Hela; Booth, Kevin T.; Chapin, Alex; Duzkale, Hatice; Matsunaga, Tatsuo; Shen, Jun; Zhang, Wenying; Kenna, Margaret; Schimmenti, Lisa A.; Tekin, Mustafa; Rehm, Heidi L.; Abou Tayoun, Ahmad N.; Amr, Sami S.; Abdelhak, Sonia; Alexander, John; Avraham, Karen; Bhatia, Neha; Bai, Donglin; Boczek, Nicole; Brownstein, Zippora; Burt, Rachel; Bylstra, Yasmin; del Castillo, Ignacio; Choi, Byung Yoon; Downie, Lilian; Friedman, Thomas; Giersch, Anne; Goh, Jasmine; Greinwald, John; Griffith, Andrew J.; Hernandez, Amy; Holt, Jeffrey; Hosoya, Makoto; Ying, Lim Jiin; Jain, Kanika; Kim, Un-Kyung; Kremer, Hannie; Krantz, Ian; Leal, Suzanne; Lewis, Morag; Liu, Xue Zhong; Low, Wendy; Lu, Yu; Luo, Minjie; Masmoudi, Saber; Ming, Tan Yuen; Moreno-Pelayo, Miguel Angel; Morin, Matias; Morton, Cynthia; Murray, Jaclyn; Mutai, Hideki; Nara, Kiyomitsu; Pandya, Arti; Pei-Rong, Sylvia Kam; Smith, Richard J. H.; Jamuar, Saumya Shekhar; Suer, Funda Elif; Usami, Shin-Ichi; Van Camp, Guy; Yamazawa, Kazuki; Yuan, Hui-Jun; Black-Zeigelbein, Elizabeth; Zhang, Keijan; ClinGen Hearing Loss Clinical Doma
Academic Journal
Garrett, Jeremy R.; Lantos, John D.; Biesecker, Leslie G.; Childerhose, Janet E.; Chung, Wendy K.; Holm, Ingrid A.; Koenig, Barbara A.; McEwen, Jean E.; Wilfond, Benjamin S.; Brothers, Kyle; Berkman, Benjamin; Bernhardt, Barbara; Caga-Anan, Charlisse; Clayton, Ellen Wright; Goldenberg, Aaron; Hull, Sara Chandros; Joffe, Steve; Krantz, Ian; Lewis, Michelle; Liang, Wayne; Lockhart, Nicole; McCollum, Susana; McCullough, Larry; McGuire, Amy; Noorbaksh, Ali; Panchang, Sarita; Parsons, D. Will; Reiss, Jacob; Roche, Myra; Rodriguez, Laura; Romasko, Edward; Ross, Lainie Friedman; Sharp, Richard; Skinner, Debra; Slashinski, Melody; Tabor, Holly; Tomlinson, Ashley; Wolf, Susan; Yu, Joon-Ho; CSER Consortium Pediat
Academic Journal
Chromosome Research; Dec2014, Vol. 22 Issue 4, p453-461, 9p
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[AR] Krantz, Ian
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