학술논문
'학술논문'
에서 검색결과 167건 | 목록
1~20
Academic Journal
Ferren, Edwin; Hillman, Paul R.; Kritzer, Amy; Ray, Joseph; Serrano, Alvaro; Northrup, Hope; Roberts, Paige; Dutta, Rana; Pramparo, Tiziano; Vig, Pamela; Steiner, Robert D.
Orphanet Journal of Rare Diseases. July 28, 2025, Vol. 20 Issue 1
Academic Journal
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Elmaksoud, Marwa Abd; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S.-Y.; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuß, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-François; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
Nature Communications. 15(1)
Academic Journal
Kritzer, Amy ; Dutta, Rana ; Pramparo, Tiziano ; Terner-Rosenthal, Jolan ; Vig, Pamela ; Steiner, Robert D.
In Genetics in Medicine July 2025 27(7)
Academic Journal
Scott, Abbey; Iglesias, Alejandro; McConkie-Rosell, Allyn; Kritzer, Amy; Boto, Ana; Lewis, Andi M.; Tzschach, Andreas; Nicosia, Annarita; O’Donnell-Luria, Anne; Peron, Angela; Thuresson, Ann-Charlotte; Vulto-van-Silfhout, Anneke; Novelli, Antonio; Plomp, Astrid S.; Gangaram, Balram; Gil-Fournier, Belén; Keren, Boris; Genetti, Casie; De Luca, Chiara; Schaaf, Christian P.; Beneteau, Claire; Graziani, Daniela; Scott, Daryl A.; Koolen, David A.; Geneviéve, David; Bax, Dorine; Leslie, Elizabeth J.; Mizerik, Elizabeth; Roeder, Elizabeth; Magness, Emily; Nibbeling, Esther; Lesca, Gaetan; Annerén, Göran; Enns, Gregory M.; Van Esch, Hilde; Goel, Himanshu; Quintela, Inés; Cobben, Jan; Morrison, Jennifer L.; Eiris, Jesus; Stoler, Joan; Gao, Josephine; Steindl, Katharina; Dipple, Katrina; Kolokotronis, Konstantinos; Seaver, Laurie H.; Pollack, Lynda; Motazacker, Mahdi; Gasparri, Manuela; Sinnema, Margje; Digilio, Maria Cristina; McDonald, Marie T.; Ramírez, Marisol Ibarra; Doco-Fenzy, Martine; Kucharczyk, Marzena; Nizon, Mathilde; Boothe, Megan; O'Leary, Melanie C.; Carter, Melissa T.; Ross, Meredith; Wilson, Meredith; Klaassens, Merel; Ginevrino, Monia; Wojcik, Monica Hsiung; Robin, Nathaniel; Chatron, Nicolas; Boute, Odile; Agrawal, Pankaj; Fontana, Paolo; Zanoni, Paolo; Joset, Pascal; Torring, Pernille M.; Billie Au, Ping Yee; Stevens, Servi; León, Soraya Ramiro; Baskin, Stephanie; DiTroia, Stephanie Parker; Siow, Sue-Faye; Demaret, Tanguy; Plaiasu, Vasilica; Clowes, Virginia; Luo, Xi; Hilhorst-Hofstee, Yvonne; Pérez Baca, María del Rocío ; Palomares-Bralo, María ; Vanhooydonck, Michiel ; Hamerlinck, Lisa ; D’haene, Eva ; Leimbacher, Sebastian ; Jacobs, Eva Z. ; De Cock, Laurenz ; D’haenens, Erika ; Dheedene, Annelies ; Malfait, Zoë ; Vantomme, Lies ; Silva, Ananilia ; Rooney, Kathleen ; Zhao, Xiaonan ; Saeidian, Amir Hossein ; Owen, Nichole Marie ; Santos-Simarro, Fernando ; Lleuger-Pujol, Roser ; García-Miñaúr, Sixto ; Losantos-García, Itsaso ; Menten, Björn ; Gestri, Gaia ; Ragge, Nicola ; Sadikovic, Bekim ; Bogaert, Elke ; Vleminckx, Kris ; Naert, Thomas ; Syx, Delfien ; Callewaert, Bert ; Vergult, Sarah
In The American Journal of Human Genetics 5 June 2025 112(6):1388-1414
Academic Journal
Kritzer, Amy; Michl, Emma; Holtz, Alexander; Horlbeck, Max; Kelly, Daniel; Cheng, Amberly; Durney, Jeffery; Dekermanji, Anthony
Genetics in Medicine Open. 3
Academic Journal
Ferren, Edwin; Hillman, Paul; Kritzer, Amy; Ray, Joseph; Russi, Alvaro Serrano; Northrup, Hope; Roberts, Paige; Dutta, Rana; Pramparo, Tiziano; Terner-Rosenthal, Jolan; Vig, Pamela; Steiner, Robert
Genetics in Medicine Open. 3
Academic Journal
Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie ; Papendorf, Jonas Johannes ; Möller, Sophie ; Wendlandt, Martin ; Studencka-Turski, Maja ; Cogné, Benjamin ; Besnard, Thomas ; Ruffier, Léa ; Toutain, Bérénice ; Poirier, Léa ; Cuinat, Silvestre ; Kritzer, Amy ; Crunk, Amy ; diMonda, Janette ; Vengoechea, Jaime ; Mercier, Sandra ; Kleinendorst, Lotte ; van Haelst, Mieke M. ; Zuurbier, Linda ; Sulem, Telma ; Katrínardóttir, Hildigunnur ; Friðriksdóttir, Rún ; Sulem, Patrick ; Stefansson, Kari ; Jonsdottir, Berglind ; Zeidler, Shimriet ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Naveh, Natali ; Skraban, Cara M. ; Gray, Christopher ; Murrell, Jill R. ; Isikay, Sedat ; Pehlivan, Davut ; Calame, Daniel G. ; Posey, Jennifer E. ; Nizon, Mathilde ; McWalter, Kirsty ; Lupski, James R. ; Isidor, Bertrand ; Bolduc, François V. ; Bézieau, Stéphane ; Krüger, Elke ; Küry, Sébastien ; Ebstein, Frédéric
In The American Journal of Human Genetics 11 July 2024 111(7):1352-1369
Academic Journal
Agrawal, Pankaj; Allcroft, Tyler; Bhandari, Vineet; Brownstein, Catherine; Cantu, Luis, Jr.; D’Gama, Alissa M.; Douglas, Jessica; Feldman, Henry A.; Genetti, Casie A.; Hills, Sonia; Honrubia, Dynio; Kritzer, Amy; Li, Qifei; Parker, Margaret; Rhein, Lawrence; Rothstein, Robert; Salinas, Odalys; Santana, Andres; Schmitz-Abe, Klaus; Serna, Anyssa; Shapiro, Faye; Shenoy, Anjana Bhami; Simoncini, Lindsey; Sinha, Bharati; Verran, Aubrie Soucy; Sousa, Anéya; Tamase Newsam, Marione; Wojcik, Monica H.; Young, Vanessa; Yu, Timothy; Yu, Timothy W. ; Agrawal, Pankaj B. ; Parker, Margaret G.
In Genetics in Medicine September 2024 26(9)
Academic Journal
Yang, Erru ; Kruger, Eliza ; Yin, David ; Mace, Kieran ; Tierney, Meghan ; Liao, Noelle ; Cibelli, Emily ; Drozd, Dan ; Ross, Nathan ; Deering, Kathleen L. ; Herout, Peter ; Harshaw, Qing ; Shillington, Alicia ; Thomas, Nina ; Marsden, Deborah ; Kritzer, Amy ; Vockley, Jerry
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B
American Journal of Human Genetics. 108(8)
Academic Journal
Pankaj Agrawal; Vineet Bhandari; Casie A Genetti; Margaret Parker; Timothy Yu; Lawrence Rhein; Jessica Douglas; Bharati Sinha; Pankaj B Agrawal; Alissa M D'Gama; Sonia Hills; Vanessa Young; Monica H Wojcik; Henry A Feldman; Timothy W Yu; Margaret G Parker; Tyler Allcroft; Luis Cantu; Alissa M D’Gama; Dynio Honrubia; Amy Kritzer; Robert Rothstein; Odalys Salinas; Andres Santana; Anyssa Serna; Faye Shapiro; Anjana Bhami Shenoy; Lindsey Simoncini; Aubrie Soucy Verran; Anéya Sousa; Qifei Li; Catherine Brownstein; Klaus Schmitz-Abe; Marione Tamase Newsam
BMJ Open, Vol 14, Iss 2 (2024)
Academic Journal
Wojcik, Monica H.; Bresnahan, Mairead; del Rosario, Maya C.; Ojeda, Mayra Martinez; Kritzer, Amy; Fraiman, Yarden S.
Pediatric Research: Official publication of the American Pediatric Society, the European Society for Paediatric Research and the Society for Pediatric Research. 93(1):110-117
Academic Journal
Kenneth Olivier; Jin He; Ribhu Nayar; Sonal Jangalwe; Qikai Xu; Yifan Wang; Amy Virbasius; Alexander Cristofaro; Gavin MacBeath; Kenneth L Jahan; Nicolas Gaspar; Kimberly M Cirelli; Shazad A Khokhar; Shubhangi Kamalia; Sveta Padmanabhan; Badr Kiaf; Victor Ospina; Alok Das Mahopatra; Tary Traore; Antoine J Boudot; Livio Dukaj; Ryan E Kritzer; Chandan K Pavuluri; Daniel C Pollacksmith; Hannah Bader; Nivya Sharma; Debanjan Goswamy; Vivin Karthik; Elisaveta Todorova; Tyler M Sinacola; Savannah G Szemethy; Kyra N Sur; Vandana Keskar; Chris Malcuit; Danielle Ramsdell
Journal for ImmunoTherapy of Cancer, Vol 11, Iss Suppl 1 (2023)
Academic Journal
In Child Abuse & Neglect March 2022 125
Academic Journal
Mccullagh, Kelly; Yeoh, Laura; Holmes, Brittany M.; Sacharow, Stephanie; Wehrman, Andrew; Kritzer, Amy; O'Connell, Amy E.
Academic Journal
Yang, Erru; Kruger, Eliza; Deering, Kathleen; Yin, David; Mace, Kieran; Liao, Noelle; Tierney, Meghan; Cibelli, Emily; Drozd, Dan; Ross, Nathan; Herout, Peter; Shillington, Alicia; Thomas, Nina; Marsden, Deborah; Kritzer, Amy; Vockley, Jerry
Genetics in Medicine Open. 1(1)
Academic Journal
Grassie, Christina; Siddharth, Aishwarya; Michl, Emma; Sacharow, Stephanie; Kritzer, Amy; Bodamer, Olaf; Peake, Roy; Hall, Patricia; Matern, Dietrich; Huguenin, Suzette; Pasquali, Marzia; Pollard, Laura
Genetics in Medicine Open. 1(1)
Academic Journal
Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frédéric; Le Guyader, Gwenaël; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Tran Mau-Them, Frédéric; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gérard, Bénédicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stéphanie; Héron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Françoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlène; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Björn; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-François; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gaël; Lecoquierre, François
Human Genetics. 141(1):65-80
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