학술논문
'학술논문'
에서 검색결과 214건 | 목록
1~10
Academic Journal
Marshall, Christian; Meng, Linyan; Jobanputra, Vaidehi; Taft, Ryan; Ashley, Euan; Nakouzi, Ghunwa; Shen, Wei; Kingsmore, Stephen; Rehm, Heidi; Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S.A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana
In Genetics in Medicine December 2023 25(12)
Academic Journal
Schmid, Cosima M.; Gregor, Anne; Costain, Gregory; Morel, Chantal F.; Massingham, Lauren; Schwab, Jennifer; Quélin, Chloé; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J.; Cohen, Ana S.A.; Lemire, Gabrielle; Sacharow, Stephanie; O’Donnell-Luria, Anne; Segal, Ranit Jaron; Kianmahd Shamshoni, Jessica; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P.; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, André; Sticht, Heinrich; Chung, Wendy K.; Zweier, Christiane
In Genetics in Medicine July 2023 25(7)
Academic Journal
Smallwood, Kelly; Watt, Kristin E.N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Guillen Sacoto, Maria J.; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole
In The American Journal of Human Genetics 4 May 2023 110(5):809-825
Academic Journal
In European Journal of Medical Genetics July 2021 64(7)
Academic Journal
Lee, Brian; Nasanovsky, Lily; Shen, Lishuang; Maglinte, Dennis T.; Pan, Yachen; Gai, Xiaowu; Schmidt, Ryan J.; Raca, Gordana; Biegel, Jaclyn A.; Roytman, Megan; An, Paul; Saunders, Carol J.; Farrow, Emily G.; Shams, Soheil; Ji, Jianling
In The Journal of Molecular Diagnostics May 2024 26(5):337-348
Academic Journal
In Advances in Molecular Pathology November 2018 1(1):1-8
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Academic Journal
Milner, Joshua D. ; Vogel, Tiphanie P.; Forbes, Lisa; Ma, Chi A.; Stray-Pedersen, Asbjørg; Niemela, Julie E.; Lyons, Jonathan J.; Engelhardt, Karin R.; Zhang, Yu; Topcagic, Nermina; Roberson, Elisha D.O.; Matthews, Helen; Verbsky, James W.; Dasu, Trivikram; Vargas-Hernandez, Alexander; Varghese, Nidhy; McClain, Kenneth L.; Karam, Lina B.; Nahmod, Karen; Makedonas, George; Mace, Emily M.; Sorte, Hanne S.; Perminow, Gøri; Rao, V. Koneti; O’Connell, Michael P.; Price, Susan; Su, Helen C.; Butrick, Morgan; McElwee, Joshua; Hughes, Jason D.; Willet, Joseph; Swan, David; Xu, Yaobo; Santibanez-Koref, Mauro; Slowik, Voytek; Dinwiddie, Darrell L.; Ciaccio, Christina E.; Saunders, Carol J.; Septer, Seth; Kingsmore, Stephen F.; White, Andrew J.; Cant, Andrew J.; Hambleton, Sophie; Cooper, Megan A.
In Blood 22 January 2015 125(4):591-599
Academic Journal
Saunders, Carol J.; Brunelli, Luca; Deem, Michael J.; Farrow, Emily G.; Hegde, Madhuri; Stark, Zornitza
Academic Journal
Rehm, Heidi L.; Alaimo, Joseph T.; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G.; Chao, Elizabeth C.; Chen, Elaine; Clifford, Jacob; Cohen, Ana S. A.; Conlin, Laura K.; Das, Soma; Davis, Kyle W.; del Gaudio, Daniela; Del Viso, Florencia; Divincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B.; Harrison, Steven M.; Hatchell, Kathryn E.; Dyer, Lindsay Havens; Hoang, Lily U.; Holt, James M.; Jobanputra, Vaidehi; Karbassi, Izabela D.; Kearney, Hutton M.; Kelly, Melissa A.; Kelly, Jacob M.; Kluge, Michelle L.; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S.; Marshall, Christian R.; Mcknight, Dianalee; Mcwalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S.; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K.; Paolucci, Sarah A.; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J.; Retterer, Kyle; Saunders, Carol J.; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J.; Thiffault, Isabelle; Thomas, Brittany C.; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J.; Towne, Meghan C.; Zouk, Hana; Med Genome Initiat Steering Comm
Academic Journal
Giardino, Giuliana; Gallo, Vera; Somma, Domenico; Farrow, Emily G.; Thiffault, Isabelle; D'Assante, Roberta; Donofrio, Vittoria; Paciolla, Mariateresa; Ursini, Matilde Valeria; Leonardi, Antonio; Saunders, Carol J.; Pignata, Claudio
In The Journal of Allergy and Clinical Immunology May 2016 137(5):1591-1595
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[AR] Saunders, Carol J.
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