학술논문
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'학술논문'
에서 검색결과 261건 | 목록
1~20
Academic Journal
Riley M. McCarty; Dimah Saade; Pinki Munot; Chamindra G. Laverty; Hailey Pinz; Yaqun Zou; Meghan McAnally; Pomi Yun; Cuixia Tian; Ying Hu; Lucy Feng; Rahul Phadke; Sophia Ceulemans; Pilar Magoulas; Andrew J. Skalsky; Jennifer R. Friedman; Stephen R. Braddock; Sarah B. Neuhaus; Denise M. Malicki; Matthew N. Bainbridge; Shareef Nahas; David P. Dimmock; Stephen F. Kingsmore; Timothy E. Lotze; A. Reghan Foley; Francesco Muntoni; Volker Straub; Sandra Donkervoort; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 12, Iss 3, Pp 602-614 (2025)
Academic Journal
Chambers, Christina D.; Johnson, Diana L.; Luo, Yunjun; Xu, Ronghui; Adam, Margaret P.; Braddock, Stephen R.; Jones, Kenneth Lyons
American Journal of Gastroenterology. Jun 11, 2025
Academic Journal
Journal of Allergy and Clinical Immunology: Global, Vol 4, Iss 2, Pp 100416- (2025)
Academic Journal
Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J. ; Jackson, Adam ; Ramakrishnan, Reshmi ; Cardona-Londoño, Kelly J. ; Peña-Guerra, Karla A. ; van Bever, Yolande ; van Paassen, Barbara W. ; Kievit, Anneke ; van Slegtenhorst, Marjon ; Allen, Nicholas M. ; Kehoe, Caroline M. ; Robinson, Hannah K. ; Pang, Lewis ; Banu, Selina H. ; Zaman, Mashaya ; Efthymiou, Stephanie ; Houlden, Henry ; Järvelä, Irma ; Lauronen, Leena ; Määttä, Tuomo ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Ruivenkamp, Claudia A.L. ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Galehdari, Hamid ; Mazaheri, Neda ; Sisodiya, Sanjay M. ; Harrison, Victoria ; Sun, Angela ; Thies, Jenny ; Pedroza, Luis Alberto ; Lara-Taranchenko, Yana ; Chinn, Ivan K. ; Lupski, James R. ; Garza-Flores, Alexandra ; McGlothlin, Jeffery ; Yang, Lin ; Huang, Shaoping ; Wang, Xiaodong ; Jewett, Tamison ; Rosso, Gretchen ; Lin, Xi ; Mohammed, Shehla ; Merritt, J. Lawrence, II ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Scheck, Joshua ; Elting, Mariet W. ; Polstra, Abeltje M. ; Schenck, Lauren ; Ruzhnikov, Maura R.Z. ; Vetro, Annalisa ; Montomoli, Martino ; Guerrini, Renzo ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Pastore, Matthew T. ; McBride, Kim L. ; Peng, Jing ; Pan, Zou ; Willemsen, Marjolein ; Koning, Susanne ; Turnpenny, Peter D. ; de Vries, Bert B.A. ; Gilissen, Christian ; Pfundt, Rolph ; Lees, Melissa ; Braddock, Stephen R. ; Klemp, Kara C. ; Vansenne, Fleur ; van Gijn, Marielle E. ; Quindipan, Catherine ; Deardorff, Matthew A. ; Hamm, J. Austin ; Putnam, Abbey M. ; Baud, Rebecca ; Walsh, Laurence ; Lynch, Sally A. ; Baptista, Julia ; Person, Richard E. ; Monaghan, Kristin G. ; Crunk, Amy ; Keller-Ramey, Jennifer ; Reich, Adi ; Elloumi, Houda Zghal ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Haghshenas, Sadegheh ; Maroofian, Reza ; Sadikovic, Bekim ; Banka, Siddharth ; Arold, Stefan T. ; Barakat, Tahsin Stefan
In Genetics in Medicine November 2021 23(11):2122-2137
Academic Journal
Journal of Allergy and Clinical Immunology: Global, Vol 2, Iss 4, Pp 100153- (2023)
Academic Journal
Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt; J. Lawrence; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
Genet Med
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Academic Journal
Timothy D. Gauntner; Manasa Karumuri; Miguel A. Guzman; Sara E. Starnes; Sherri Besmer; Hailey Pinz; Stephen R. Braddock; Teresa L. Andreone
Clinical Case Reports, Vol 9, Iss 3, Pp 1518-1523 (2021)
Academic Journal
Aldinger, Kimberly A. ; Timms, Andrew E. ; Thomson, Zachary ; Mirzaa, Ghayda M. ; Bennett, James T. ; Rosenberg, Alexander B. ; Roco, Charles M. ; Hirano, Matthew ; Abidi, Fatima ; Haldipur, Parthiv ; Cheng, Chi V. ; Collins, Sarah ; Park, Kaylee ; Zeiger, Jordan ; Overmann, Lynne M. ; Alkuraya, Fowzan S. ; Biesecker, Leslie G. ; Braddock, Stephen R. ; Cathey, Sara ; Cho, Megan T. ; Chung, Brian H.Y. ; Everman, David B. ; Zarate, Yuri A. ; Jones, Julie R. ; Schwartz, Charles E. ; Goldstein, Amy ; Hopkin, Robert J. ; Krantz, Ian D. ; Ladda, Roger L. ; Leppig, Kathleen A. ; McGillivray, Barbara C. ; Sell, Susan ; Wusik, Katherine ; Gleeson, Joseph G. ; Nickerson, Deborah A. ; Bamshad, Michael J. ; Gerrelli, Dianne ; Lisgo, Steven N. ; Seelig, Georg ; Ishak, Gisele E. ; Barkovich, A. James ; Curry, Cynthia J. ; Glass, Ian A. ; Millen, Kathleen J. ; Doherty, Dan ; Dobyns, William B.
In The American Journal of Human Genetics 5 September 2019 105(3):606-615
Academic Journal
Raymond Y. Wang; Kyle D. Rudser; Donald R. Dengel; Nicholas Evanoff; Julia Steinberger; Nina Movsesyan; Robert Garrett; Katherine Christensen; Deborah Boylan; Stephen R. Braddock; Marwan Shinawi; Qi Gan; Adriana M. Montaño
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Academic Journal
Burton, Barbara K. ; Hoganson, George E. ; Fleischer, Julie ; Grange, Dorothy K. ; Braddock, Stephen R. ; Hickey, Rachel ; Hitchins, Lauren ; Groepper, Daniel ; Christensen, Katherine M. ; Kirby, Amelia ; Moody, Conny ; Shryock, Heather ; Ashbaugh, Laura ; Shao, Rong ; Basheeruddin, Khaja
In The Journal of Pediatrics November 2019 214:165-167
Academic Journal
Burton, Barbara K. ; Charrow, Joel ; Hoganson, George E. ; Waggoner, Darrell ; Tinkle, Brad ; Braddock, Stephen R. ; Schneider, Michael ; Grange, Dorothy K. ; Nash, Claudia ; Shryock, Heather ; Barnett, Rebecca ; Shao, Rong ; Basheeruddin, Khaja ; Dizikes, George
In The Journal of Pediatrics November 2017 190:130-135
Academic Journal
Rodrigues, Jonathan M.; Fernandes, Hermina D.; Caruthers, Carrie; Braddock, Stephen R.; Knutsen, Alan P.
World Allergy Organization Journal. 13(8)
Academic Journal
Garey, Joan D.; Damkier, Per; Scialli, Anthony R.; Lusskin, Shari; Braddock, Stephen R.; Chouchana, Laurent; Cleary, Brian; Conover, Elizabeth A.; Diav-Citrin, Orna; Dragovich, Rachel S.; Garcia-Bournissen, Facundo; Hodson, Ken; Kennedy, Debra; Lamm, Steven H.; Lavigne, Sharon A.; Obican, Sarah G.; Panchaud, Alice; Perrotta, Kirstie; Romeo, Alfred N.; Shechtman, Svetlana; Weber-Schoendorfer, Corinna
Academic Journal
Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.
J Clin Endocrinol Metab
The Journal of Clinical Endocrinology & Metabolism; Vol 97
Journal of Clinical Endocrinology and Metabolism, 97, 2, pp. E257-67
The Journal of Clinical Endocrinology & Metabolism; Vol 97
Journal of Clinical Endocrinology and Metabolism, 97, 2, pp. E257-67
Academic Journal
Braddock, Stephen R.; South, Sarah T.; Schiffman, Joshua D.; Longhurst, Maria; Rowe, Leslie R.; Carey, John C.
Academic Journal
Christina D Chambers; Diana L Johnson; Ronghui Xu; Yunjun Luo; Janina Lopez-Jimenez; Margaret P Adam; Stephen R Braddock; Luther K Robinson; Keith Vaux; Kenneth Lyons Jones; OTIS Collaborative Research Group
PLoS ONE, Vol 14, Iss 10, p e0223603 (2019)
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, vol 40, iss 5
Academic Journal
Annals of Allergy, Asthma & Immunology. 122(2):222-223
Academic Journal
Burton, Barbara K.; Charrow, Joel; Hoganson, George E.; Fleischer, Julie; Grange, Dorothy K.; Braddock, Stephen R.; Hitchins, Lauren; Hickey, Rachel; Christensen, Katherine M.; Groepper, Daniel; Shryock, Heather; Smith, Pamela; Shao, Rong; Basheeruddin, Khaja
International Journal of Neonatal Screening. March, 2020, Vol. 6 Issue 1
Academic Journal
Akula, Shyam K.; Chen, Allen Y.; Neil, Jennifer E.; Shao, Diane D.; Mo, Alisa; Hylton, Norma K.; DiTroia, Stephanie; Ganesh, Vijay S.; Smith, Richard S.; O'Kane, Katherine; Yeh, Rebecca C.; Marciano, Jack H.; Kirkham, Samantha; Kenny, Connor J.; Song, Janet H. T.; Al Saffar, Muna; Millan, Francisca; Harris, David J.; Murphy, Andrea V.; Klemp, Kara C.; Braddock, Stephen R.; Brand, Harrison; Wong, Isaac; Talkowski, Michael E.; O'Donnell-Luria, Anne; Lai, Abbe; Hill, Robert Sean; Mochida, Ganeshwaran H.; Doan, Ryan N.; Barkovich, A. James; Yang, Edward; Amrom, Dina; Andermann, Eva; Poduri, Annapurna; Walsh, Christopher A.; Polymicrogyria Genet Res Network
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[검색어] Braddock, Stephen R.
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