학술논문
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'학술논문'
에서 검색결과 137건 | 목록
1~20
Academic Journal
Kleinfelder, Karina ; Lotti, Virginia ; Eramo, Adriana ; Amato, Felice ; Lo Cicero, Stefania ; Castelli, Germana ; Spadaro, Francesca ; Farinazzo, Alessia ; Dell’Orco, Daniele ; Preato, Sara ; Conti, Jessica ; Rodella, Luca ; Tomba, Francesco ; Cerofolini, Angelo ; Baldisseri, Elena ; Bertini, Marina ; Volpi, Sonia ; Villella, Valeria Rachela ; Esposito, Speranza ; Zollo, Immacolata ; Castaldo, Giuseppe ; Laudanna, Carlo ; Sorsher, Eric J. ; Hong, Jeong ; Joshi, Disha ; Cutting, Garry ; Lucarelli, Marco ; Melotti, Paola ; Sorio, Claudio
In iScience 17 November 2023 26(11)
Academic Journal
Kingston, Hanley ; Stilp, Adrienne M. ; Gordon, William ; Broome, Jai ; Gogarten, Stephanie M. ; Ling, Hua ; Barnard, John ; Dugan-Perez, Shannon ; Ellinor, Patrick T. ; Gabriel, Stacey ; Germer, Soren ; Gibbs, Richard A. ; Gupta, Namrata ; Rice, Kenneth ; Smith, Albert V. ; Zody, Michael C. ; Blackman, Scott M. ; Cutting, Garry ; Knowles, Michael R. ; Zhou, Yi-Hui ; Rosenfeld, Margaret ; Gibson, Ronald L. ; Bamshad, Michael ; Fohner, Alison ; Blue, Elizabeth E.
In Human Genetics and Genomics Advances 14 July 2022 3(3)
Academic Journal
Lin, Yu-Chung ; Keenan, Katherine ; Gong, Jiafen ; Panjwani, Naim ; Avolio, Julie ; Lin, Fan ; Adam, Damien ; Barrett, Paula ; Bégin, Stéphanie ; Berthiaume, Yves ; Bilodeau, Lara ; Bjornson, Candice ; Brusky, Janna ; Burgess, Caroline ; Chilvers, Mark ; Consunji-Araneta, Raquel ; Côté-Maurais, Guillaume ; Dale, Andrea ; Donnelly, Christine ; Fairservice, Lori ; Griffin, Katie ; Henderson, Natalie ; Hillaby, Angela ; Hughes, Daniel ; Iqbal, Shaikh ; Itterman, Jennifer ; Jackson, Mary ; Karlsen, Emma ; Kosteniuk, Lorna ; Lazosky, Lynda ; Leung, Winnie ; Levesque, Valerie ; Maille, Émilie ; Mateos-Corral, Dimas ; McMahon, Vanessa ; Merjaneh, Mays ; Morrison, Nancy ; Parkins, Michael ; Pike, Jennifer ; Price, April ; Quon, Bradley S. ; Reisman, Joe ; Smith, Clare ; Smith, Mary Jane ; Vadeboncoeur, Nathalie ; Veniott, Danny ; Viczko, Terry ; Wilcox, Pearce ; van Wylick, Richard ; Cutting, Garry ; Tullis, Elizabeth ; Ratjen, Felix ; Rommens, Johanna M. ; Sun, Lei ; Solomon, Melinda ; Stephenson, Anne L. ; Brochiero, Emmanuelle ; Blackman, Scott ; Corvol, Harriet ; Strug, Lisa J.
In Genetics in Medicine May 2021 23(5):927-933
Academic Journal
Clancy, John Paul ; Cotton, Calvin U. ; Donaldson, Scott H. ; Solomon, George M. ; VanDevanter, Donald R. ; Boyle, Michael P. ; Gentzsch, Martina ; Nick, Jerry A. ; Illek, Beate ; Wallenburg, John C. ; Sorscher, Eric J. ; Amaral, Margarida D. ; Beekman, Jeffrey M. ; Naren, Anjaparavanda P. ; Bridges, Robert J. ; Thomas, Philip J. ; Cutting, Garry ; Rowe, Steven ; Durmowicz, Anthony G. ; Mense, Martin ; Boeck, Kris D. ; Skach, William ; Penland, Christopher ; Joseloff, Elizabeth ; Bihler, Hermann ; Mahoney, John ; Borowitz, Drucy ; Tuggle, Katherine L.
In Journal of Cystic Fibrosis January 2019 18(1):22-34
Academic Journal
Wang, Ying ; Busin, Rachel ; Reeves, Catherine ; Bezman, Lena ; Raymond, Gerald ; Toomer, Cicely J. ; Watkins, Paul A. ; Snowden, Ann ; Moser, Ann ; Naidu, Sakkubai ; Bibat, Genila ; Hewson, Stacy ; Tam, Karen ; Clarke, Joe T.R. ; Charnas, Lawrence ; Stetten, Gail ; Karczeski, Barbara ; Cutting, Garry ; Steinberg, Steven
In Molecular Genetics and Metabolism September-October 2011 104(1-2):160-166
Academic Journal
Castellani, Carlo ; Macek, Milan, Jr. ; Cassiman, Jean-Jacques ; Duff, Alistair ; Massie, John ; ten Kate, Leo P. ; Barton, David ; Cutting, Garry ; Dallapiccola, Bruno ; Dequeker, Elisabeth ; Girodon, Emmanuelle ; Grody, Wayne ; Highsmith, Edward W. ; Kääriäinen, Helenal ; Kruip, Stephan ; Morris, Michael ; Pignatti, Pier Franco ; Pypops, Ulrike ; Schwarz, Martin ; Soller, Maria ; Stuhrman, Manfred ; Cuppens, Harry
In Journal of Cystic Fibrosis 2010 9(3):165-178
Academic Journal
Steinberg, Steven ; Chen, Li ; Wei, Liumei ; Moser, Ann ; Moser, Hugo ; Cutting, Garry ; Braverman, Nancy
In Molecular Genetics and Metabolism 2004 83(3):252-263
Academic Journal
Brenner, Todd A.; Challa, Suryanarayana Reddy; Singh, Anmol; Gurakar, Merve; Szvarca, Daniel; Bhullar, Furqan A.; McKee, Katherine; Vanscoy, Lori L.; Cutting, Garry; Mogayzel, Peter; Singh, Vikesh; Akshintala, Venkata S.
In Gastroenterology May 2022 162(7) Supplement:S
Academic Journal
Kniazeva, Marina ; Traboulsi, Elias I ; Yu, Zhengya; Stefko, Susan T ; Gorin, Michael B ; Shugart, Yin Y ; O’Connell, Jeffrey R ; Blaschak, Carrie J ; Cutting, Garry ; Han, Min ; Zhang, Kang
In American Journal of Ophthalmology 2000 130(2):197-202
Academic Journal
Lin, Yu-Chung ; Keenan, Katherine ; Gong, Jiafen ; Panjwani, Naim ; Avolio, Julie ; Lin, Fan ; Adam, Damien ; Barrett, Paula ; Bégin, Stéphanie ; Berthiaume, Yves ; Bilodeau, Lara ; Bjornson, Candice ; Brusky, Janna ; Burgess, Caroline ; Chilvers, Mark ; Consunji-Araneta, Raquel ; Côté-Maurais, Guillaume ; Dale, Andrea ; Donnelly, Christine ; Fairservice, Lori ; Griffin, Katie ; Henderson, Natalie ; Hillaby, Angela ; Hughes, Daniel ; Iqbal, Shaikh ; Itterman, Jennifer ; Jackson, Mary ; Karlsen, Emma ; Kosteniuk, Lorna ; Lazosky, Lynda ; Leung, Winnie ; Levesque, Valerie ; Maille, Émilie ; Mateos-Corral, Dimas ; McMahon, Vanessa ; Merjaneh, Mays ; Morrison, Nancy ; Parkins, Michael ; Pike, Jennifer ; Price, April ; Quon, Bradley S. ; Reisman, Joe ; Smith, Clare ; Smith, Mary Jane ; Vadeboncoeur, Nathalie ; Veniott, Danny ; Viczko, Terry ; Wilcox, Pearce ; van Wylick, Richard ; Cutting, Garry ; Tullis, Elizabeth ; Ratjen, Felix ; Rommens, Johanna M. ; Sun, Lei ; Solomon, Melinda ; Stephenson, Anne L. ; Brochiero, Emmanuelle ; Blackman, Scott ; Corvol, Harriet ; Strug, Lisa J.
In Genetics in Medicine November 2021 23(11):2235-2236
Academic Journal
Singh, Varsha; Tse, Ming; Lin, Ruxian; Johnson, Kelli; Yin, Jianyi; Cutting, Garry; De Jonge, Hugo; Donowitz, Mark; Sharma, Neeraj S.
In Gastroenterology May 2021 160(6) Supplement:S
Academic Journal
Maria Zanti; Denise G. O'Mahony; Michael T. Parsons; Hongyan Li; Joe Dennis; Kristiina Aittomäkkiki; Irene L. Andrulis; Hoda Anton-Culver; Kristan J. Aronson; Annelie Augustinsson; Heiko Becher; Stig E. Bojesen; Manjeet K. Bolla; Hermann Brenner; Melissa A. Brown; Saundra S. Buys; Federico Canzian; Sandrine M. Caputo; Jose E. Castelao; Jenny Chang-Claude; null GC-HBOC study Collaborators; Kamila Czene; Mary B. Daly; Arcangela De Nicolo; Peter Devilee; Thilo Dörk; Alison M. Dunning; Miriam Dwek; Diana M. Eccles; Christoph Engel; D. Gareth Evans; Peter A. Fasching; Manuela Gago-Dominguez; Montserrat García-Closas; José A. García-Sáenz; Aleksandra Gentry-Maharaj; Willemina R. R. Geurts - Giele; Graham G. Giles; Gord Glendon; Mark S. Goldberg; Encarna B. Gómez Garcia; Melanie Güendert; Pascal Guénel; Eric Hahnen; Christopher A. Haiman; Per Hall; Ute Hamann; Elaine F. Harkness; Frans B. L. Hogervorst; Antoinette Hollestelle; Reiner Hoppe; John L. Hopper; Claude Houdayer; Richard S. Houlston; Anthony Howell; null ABCTB Investigators; Milena Jakimovska; Anna Jakubowska; Helena Jernström; Esther M. John; Rudolf Kaaks; Cari M. Kitahara; Stella Koutros; Peter Kraft; Vessela N. Kristensen; James V. Lacey; Diether Lambrechts; Melanie Léoné; Annika Lindblom; Jan Lubiński; Michael Lush; Arto Mannermaa; Mehdi Manoochehri; Siranoush Manoukian; Sara Margolin; Maria Elena Martinez; Usha Menon; Roger L. Milne; Alvaro N. Monteiro; Rachel A. Murphy; Susan L. Neuhausen; Heli Nevanlinna; William G. Newman; Kenneth Offit; Sue K. Park; Paul James; Paolo Peterlongo; Julian Peto; Dijana Plaseska-Karanfilska; Kevin Punie; Paolo Radice; Muhammad U. Rashid; Gad Rennert; Atocha Romero; Efraim H. Rosenberg; Emmanouil Saloustros; Dale P. Sandler; Marjanka K. Schmidt; Rita K. Schmutzler; Xiao-Ou Shu; Jacques Simard; Melissa C. Southey; Jennifer Stone; Dominique Stoppa-Lyonnet; Rulla M. Tamimi; William J. Tapper; Jack A. Taylor; Soo Hwang Teo; Lauren R. Teras; Mary Beth Terry; Mads Thomassen; Melissa A. Troester; Celine M. Vachon; Ana Vega; Maaike P. G. Vreeswijk; Qin Wang; Barbara Wappenschmidt; Clarice R. Weinberg; Alicja Wolk; Wei Zheng; Bingjian Feng; Fergus J. Couch; Amanda B. Spurdle; Douglas F. Easton; David E. Goldgar; Kyriaki Michailidou
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Hum. Mutat. 2023:17 (2023)
GC-HBOC Study Collaborators 2023, 'A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.', Human Mutation, vol. 2023, 9961341. https://doi.org/10.1155/2023/9961341
Human Mutation, vol 2023, iss 1
Consejería de Sanidad de la Comunidad de Madrid
Hum. Mutat. 2023:17 (2023)
GC-HBOC Study Collaborators 2023, 'A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.', Human Mutation, vol. 2023, 9961341. https://doi.org/10.1155/2023/9961341
Human Mutation, vol 2023, iss 1
Academic Journal
Lin, Xiaoping; Steinberg, Steven; Kandasamy, Suresh K.; Afzal, Junaid; Mbiyangandu, Blaid; Liao, Susan E.; Guan, Yufan; Corona-Villalobos, Celia P.; Matkovich, Scot J.; Epstein, Neal; Tripodi, Dotti; Huo, Zhaoxia; Cutting, Garry; Abraham, Theodore P.; Fukunaga, Ryuya; Abraham, M. Roselle
Academic Journal
Bowling, Alyssa; Eastman, Alice; Merlo, Christian; Lin, Gabrielle; West, Natalie; Patel, Shivani; Cutting, Garry; Sharma, Neeraj
Academic Journal
Stonebraker, Jaclyn; Pace, Rhonda; Gallins, Paul; Dang, Hong; Aksit, Melis; Faino, Anna; Gordon, William; Macparland, Sonya; Bamshad, Michael; Gibson, Ronald; Cutting, Garry; Durie, Peter; Wright, Fred; Zhou, Yi-Hui; Blackman, Scott; O'Neal, Wanda; Ling, Simon; Knowles, Michael
Academic Journal
Groman, Joshua D. ; Bolger, William ; Brass-Ernst, Lois ; MacEk, Milan, Jr ; Zeitlin, Pam ; Cutting, Garry
In Otolaryngology - Head and Neck Surgery 2004 131(6):1009-1011
Academic Journal
Aksit, Melis; Pace, Rhonda; Vecchio-Pagán, Briana; Ling, Hua; Rommens, Johanna; Boelle, Pierre-Yves; Guillot, Loic; Raraigh, Karen; Pugh, Elizabeth; Zhang, Peng; Strug, Lisa; Drumm, Mitch; Knowles, Michael; Cutting, Garry; Corvol, Harriet; Blackman, Scott
The Journal of Clinical Endocrinology & Metabolism. 105:1401-1415
Academic Journal
Cellular and Molecular Biology Letters. 12(3):435-447
Academic Journal
Darrah, Rebecca; Jacono, Frank; Joshi, Neha; Mitchell, Anna; Sattar, Abdus; Campanaro, Cara; Litman, Paul; Frey, Jennifer; Nethery, David; Barbato, Eric; Hodges, Craig; Corvol, Harriet; Cutting, Garry; Knowles, Michael; Strug, Lisa; Drumm, Mitchell
Journal of Cystic Fibrosis. 18:127-134
Academic Journal
Polineni, Deepika; Dang, Hong; Gallins, Paul; Jones, Lisa; Pace, Rhonda; Stonebraker, Jaclyn; Commander, Leah; Krenicky, Jeanne; Zhou, Yi-Hui; Corvol, Harriet; Cutting, Garry; Drumm, Mitchell; Strug, Lisa; Boyle, Michael; Durie, Peter; Chmiel, James; Zou, Fei; Wright, Fred; O’neal, Wanda; Knowles, Michael
American Journal of Respiratory and Critical Care Medicine. 197:79-93
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