학술논문
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'학술논문'
에서 검색결과 293건 | 목록
1~20
Academic Journal
Chong, Jessica X. ; Childers, Matthew Carter ; Marvin, Colby T. ; Marcello, Anthony J. ; Gonorazky, Hernan ; Hazrati, Lili-Naz ; Dowling, James J. ; Al Amrani, Fatema ; Alanay, Yasemin ; Nieto, Yolanda ; Gabriel, Miguel Á Marín ; Aylsworth, Arthur S. ; Buckingham, Kati J. ; Shively, Kathryn M. ; Sommers, Olivia ; Anderson, Kailyn ; Regnier, Michael ; Bamshad, Michael J.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Chong, Jessica X.; Talbot, Jared C.; Teets, Emily M.; Previs, Samantha; Martin, Brit L.; Shively, Kathryn M.; Marvin, Colby T.; Aylsworth, Arthur S.; Saadeh-Haddad, Reem; Schatz, Ulrich A.; Inzana, Francesca; Ben-Omran, Tawfeg; Almusafri, Fatima; Al-Mulla, Mariam; Buckingham, Kati J.; Harel, Tamar; Mor-Shaked, Hagar; Radhakrishnan, Periyasamy; Girisha, Katta M; Nayak, Shalini S.; Shukla, Anju; Dieterich, Klaus; Faure, Julien; Rendu, John; Capri, Yline; Latypova, Xenia; Nickerson, Deborah A.; Warshaw, David; Janssen, Paul M.; Amacher, Sharon L.; Bamshad, Michael J.
The American Journal of Human Genetics. 107:293-310
Academic Journal
Milko, Laura V. ; O'Daniel, Julianne M. ; DeCristo, Daniela M. ; Crowley, Stephanie B. ; Foreman, Ann Katherine M. ; Wallace, Kathleen E. ; Mollison, Lonna F. ; Strande, Natasha T. ; Girnary, Zahra S. ; Boshe, Lacey J. ; Aylsworth, Arthur S. ; Gucsavas-Calikoglu, Muge ; Frazier, Dianne M. ; Vora, Neeta L. ; Roche, Myra I. ; Powell, Bradford C. ; Powell, Cynthia M. ; Berg, Jonathan S.
In The Journal of Pediatrics June 2019 209:68-76
Academic Journal
Chong, Jessica X; Childers, Matthew Carter; Marvin, Colby T; Marcello, Anthony J; Gonorazky, Hernan; Hazrati, Lili-Naz; Dowling, James J; Al Amrani, Fatema; Alanay, Yasemin; Nieto, Yolanda; Gabriel, Miguel Á Marín; Aylsworth, Arthur S; Buckingham, Kati J; Shively, Kathryn M; Sommers, Olivia; Anderson, Kailyn; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier, Michael; Bamshad, Michael J
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Shapira, Stuart K.; Tian, Lin H.; Aylsworth, Arthur S.; Elias, Ellen R.; Hoover-Fong, Julie E.; Meeks, Naomi J. L.; Souders, Margaret C.; Tsai, Anne C.-H; Zackai, Elaine H.; Alexander, Aimee A.; Yeargin-Allsopp, Marshalyn; Schieve, Laura A.
Academic Journal
Koczkowska, Magdalena ; Callens, Tom ; Gomes, Alicia ; Sharp, Angela ; Chen, Yunjia ; Hicks, Alesha D. ; Aylsworth, Arthur S. ; Azizi, Amedeo A. ; Basel, Donald G. ; Bellus, Gary ; Bird, Lynne M. ; Blazo, Maria A. ; Burke, Leah W. ; Cannon, Ashley ; Collins, Felicity ; DeFilippo, Colette ; Denayer, Ellen ; Digilio, Maria C. ; Dills, Shelley K. ; Dosa, Laura ; Greenwood, Robert S. ; Griffis, Cristin ; Gupta, Punita ; Hachen, Rachel K. ; Hernández-Chico, Concepción ; Janssens, Sandra ; Jones, Kristi J. ; Jordan, Justin T. ; Kannu, Peter ; Korf, Bruce R. ; Lewis, Andrea M. ; Listernick, Robert H. ; Lonardo, Fortunato ; Mahoney, Maurice J. ; Ojeda, Mayra Martinez ; McDonald, Marie T. ; McDougall, Carey ; Mendelsohn, Nancy ; Miller, David T. ; Mori, Mari ; Oostenbrink, Rianne ; Perreault, Sebastién ; Pierpont, Mary Ella ; Piscopo, Carmelo ; Pond, Dinel A. ; Randolph, Linda M. ; Rauen, Katherine A. ; Rednam, Surya ; Rutledge, S. Lane ; Saletti, Veronica ; Schaefer, G. Bradley ; Schorry, Elizabeth K. ; Scott, Daryl A. ; Shugar, Andrea ; Siqveland, Elizabeth ; Starr, Lois J. ; Syed, Ashraf ; Trapane, Pamela L. ; Ullrich, Nicole J. ; Wakefield, Emily G. ; Walsh, Laurence E. ; Wangler, Michael F. ; Zackai, Elaine ; Claes, Kathleen B.M. ; Wimmer, Katharina ; van Minkelen, Rick ; De Luca, Alessandro ; Martin, Yolanda ; Legius, Eric ; Messiaen, Ludwine M.
In Genetics in Medicine April 2019 21(4):867-876
Academic Journal
Korbel, Jan O.; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dal, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C.; Lange, Ken; Sobel, Eric M.; Barlow, Gillian M.; Aylsworth, Arthur S.; Carpenter, Nancy J.; Clark, Robin Dawn; Cohen, Monika Y.; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O.; Lott, Ira T.; McGillivray, Barbara C.; Moeschler, John B.; Pettenati, Mark J.; Pueschel, Slegfried M.; Raol, Kathleen W.; Shaffer, Lisa G.; Shohat, Mordechai; van Riper, Alexander J.; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B.; Snyder, Michael; Korenberg, Julie R.; Ecker, Joseph R.
Proceedings of the National Academy of Sciences of the United States of America, 2009 Jul . 106(29), 12031-12036.
Academic Journal
Warren, Joshua L.; Stingone, Jeanette A.; Herring, Amy H.; Luben, Thomas J.; Fuentes, Montserrat; Aylsworth, Arthur S.; Langlois, Peter H.; Botto, Lorenzo D.; Correa, Adolfo; Olshan, Andrew F.; National Birth Defects Prevention Study
Statistics in Medicine. 35:2786-2801
Academic Journal
Schwartz, Charles E.; Aylsworth, Arthur S.; Allanson, Judith; Battaglia, Agatino; Carey, John C.; Curry, Cynthia J.; Davies, Kay E.; Eichler, Evan E.; Graham Jr, John M.; Hall, Bryan; Hall, Judith G.; Holmes, Lewis B.; Hoyme, H. Eugene; Hunter, Alasdair; Innis, Jeffrey; Johnson, John; Keppler-Noreuil, Kim M.; Leroy, Jules G.; Moore, Cynthia; Nelson, David L.; Neri, Giovanni; Opitz, John M.; Picketts, David; Raymond, F. Lucy; Shalev, Stavit Allon; Stevenson, Roger E.; Stumpel, Connie T. R. M.; Sutherland, Grant; Viskochil, David H.; Weaver, David D.; Zackai, Elaine H.
Academic Journal
McMillin, Margaret J; Beck, Anita E; Chong, Jessica X; Shively, Kathryn M; Buckingham, Kati J; Gildersleeve, Heidi IS; Aracena, Mariana I; Aylsworth, Arthur S; Bitoun, Pierre; Carey, John C; Clericuzio, Carol L; Crow, Yanick J; Curry, Cynthia J; Devriendt, Koenraad; Everman, David B; Fryer, Alan; Gibson, Kate; Uzielli, Maria Luisa Giovannucci; Graham, John M; Hall, Judith G; Hecht, Jacqueline T; Heidenreich, Randall A; Hurst, Jane A; Irani, Sarosh; Krapels, Ingrid PC; Leroy, Jules G; Mowat, David; Plant, Gordon T; Robertson, Stephen P; Schorry, Elizabeth K; Scott, Richard H; Seaver, Laurie H; Sherr, Elliott; Splitt, Miranda; Stewart, Helen; Stumpel, Constance; Temel, Sehime G; Weaver, David D; Whiteford, Margo; Williams, Marc S; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J
McMillin, M J, Beck, A E, Chong, J X, Shively, K M, Buckingham, K J, Gildersleeve, H I S , Aracena, M I, Aylsworth , A S , Bitoun, P, Carey, J C, Clericuzio, C L, Crow, Y J, Curry, C J, Devriendt, K, Everman, D B, Fryer, A, Gibson, K, Giovannucci Uzielli, M L, Graham, J M, Hall, J G, Hecht, J T, Heidenreich, R A, Hurst, J A, Irani, S , Krapels, I P C, Leroy, J G, Mowat, D, Plant, G T, Robertson, S P, Schorry, E K, Scott, R H, Seaver, L H, Sherr, E, Splitt, M, Stewart, H, Stumpel, C, Temel, S G, Weaver, D D, Whiteford, M, Williams, M S , Tabor, H K, Smith, J D, Shendure, J, Nickerson, D A & Bamshad, M J 2014, ' Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5 ', American Journal of Human Genetics, vol. 94, no. 5, pp. 734-744 . https://doi.org/10.1016/j.ajhg.2014.03.015
American Journal of Human Genetics, vol 94, iss 5
American Journal of Human Genetics, vol 94, iss 5
Academic Journal
In Clinics in Plastic Surgery April 2014 41(2):149-163
Academic Journal
Olney, Robert C.; Prickett, Timothy C. R.; Espiner, Eric A.; Mackenzie, William G.; Duker, Angela L.; Ditro, Colleen; Zabel, Bernhard; Hasegawa, Tomonobu; Kitoh, Hiroshi; Aylsworth, Arthur S.; Bober, Michael B.
The Journal of Clinical Endocrinology & Metabolism. 100:E355-E359
Academic Journal
Parrott, Ashley; James, Jeanne; Goldenberg, Paula; Hinton, Robert B.; Miller, Erin; Shikany, Amy; Aylsworth, Arthur S.; Kaiser-Rogers, Kathleen; Ferns, Sunita J.; Lalani, Seema R.; Ware, Stephanie M.
American Journal of Medical Genetics Part A. 167:363-370
Academic Journal
Journal of Pediatric Endocrinology and Metabolism. 24(9-10):847-850
Academic Journal
Stingone, Jeanette A.; Luben, Thomas J.; Daniels, Julie L.; Fuentes, Montserrat; Richardson, David B.; Aylsworth, Arthur S.; Herring, Amy H.; Anderka, Marlene; Botto, Lorenzo; Correa, Adolfo; Gilboa, Suzanne M.; Langlois, Peter H.; Mosley, Bridget; Shaw, Gary M.; Siffel, Csaba; Olshan, Andrew F.
Environ Health Perspect
Academic Journal
Shaffer, Lisa G; Theisen, Aaron; Bejjani, Bassem A; Ballif, Blake C; Aylsworth, Arthur S; Lim, Cynthia; McDonald, Marie; Ellison, Jay W; Kostiner, Dana; Saitta, Sulagna; Shaikh, Tamim
Genetics in Medicine. 9:607-616
Academic Journal
Scanga, Lori; Chaing, Shu; Powell, Cynthia; Aylsworth, Arthur S.; Harrell, Lizzie J.; Henshaw, Nancy G.; Civalier, Chris J.; Thorne, Leigh B.; Weck, Karen; Booker, Jessica; Gulley, Margaret L.
The Journal of Molecular Diagnostics. 8(2):240-245
Academic Journal
Singer, Alison B.; Aylsworth, Arthur S.; Cordero, Christina; Croen, Lisa A.; DiGuiseppi, Carolyn; Fallin, M. Daniele; Herring, Amy H.; Hooper, Stephen R.; Pretzel, Rebecca E.; Schieve, Laura A.; Windham, Gayle C.; Daniels, Julie L.
Paediatric and Perinatal Epidemiology. Nov 01, 2017 31(6):573-582
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D.; Aylsworth, Arthur S.; Azizi, Amedeo A.; Basel, Donald G.; Bellus, Gary; Bird, Lynne M.; Blazo, Maria A.; Burke, Leah W.; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C.; Dills, Shelley K.; Dosa, Laura; Greenwood, Robert S.; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K.; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J.; Jordan, Justin T.; Kannu, Peter; Korf, Bruce R.; Lewis, Andrea M.; Listernick, Robert H.; Lonardo, Fortunato; Mahoney, Maurice J.; Ojeda, Mayra Martinez; McDonald, Marie T.; McDougall, Carey; Mendelsohn, Nancy; Miller, David T.; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A.; Randolph, Linda M.; Rauen, Katherine A.; Rednam, Surya; Rutledge, S. Lane; Saletti, Veronica; Schaefer, G. Bradley; Schorry, Elizabeth K.; Scott, Daryl A.; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J.; Syed, Ashraf; Trapane, Pamela L.; Ullrich, Nicole J.; Wakefield, Emily G.; Walsh, Laurence E.; Wangler, Michael F.; Zackai, Elaine; Claes, Kathleen B. M.; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):764-765
Academic Journal
Stingone, Jeanette A.; Luben, Thomas J.; Carmichael, Suzan L.; Aylsworth, Arthur S.; Botto, Lorenzo D.; Correa, Adolfo; Gilboa, Suzanne M.; Langlois, Peter H.; Nembhard, Wendy N.; Richmond-Bryant, Jennifer; Shaw, Gary M.; Olshan, Andrew F.
American Journal of Epidemiology. Sep 15, 2017 186(6):719-729
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