학술논문
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'학술논문'
에서 검색결과 217건 | 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. 20(1)
Academic Journal
Walther, Brandon K.; Murray, Brittany M.; Pandiyan, Poornima; Ray, Randall; Yeoh, Laura; Kritzer, Amy
JIMD Reports. February 4, 2026, Vol. 67 Issue 2
Academic Journal
D’Gama, Alissa; Kritzer, Amy; Santana, Andres; Sousa, Anéya; Shenoy, Anjana Bhami; Serna, Anyssa; Verran, Aubrie Soucy; Sinha, Bharati; Genetti, Casie A.; Gupta, Dhruv; Honrubia, Dynio; Dean, Ellen; Shapiro, Faye; Feldman, Henry A.; Gehlsen, Jenifer; Douglas, Jessica; Rhein, Lawrence; Simoncini, Lindsey; Cantu, Luis, Jr.; Ramani, Manimaran; Parker, Margaret; Fuenmayor, Maria Franco; Newsam, Marione Tamase; Martinez, Melinda; Wojcik, Monica H.; Agrawal, Pankaj; Rothstein, Robert; Rahman, Samia Binta; Hills, Sonia; McIntyre-Major, Susan; Yu, Timothy; Allcroft, Tyler; Young, Vanessa; Bhandari, Vineet; D’Gama, Alissa M. ; Parker, Margaret G. ; Yu, Timothy W. ; Agrawal, Pankaj B.
In Genetics in Medicine November 2025 27(11)
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
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
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
Edwin Ferren; Paul Hillman; Amy Kritzer; Joseph Ray; Alvaro Serrano Russi; Hope Northrup; Paige Roberts; Rana Dutta; Tiziano Pramparo; Jolan Terner-Rosenthal; Pamela Vig; Robert Steiner
Genetics in Medicine Open, Vol 3, Iss , Pp 102861- (2025)
Academic Journal
Amy Kritzer; Emma Michl; Alexander Holtz; Max Horlbeck; Daniel Kelly; Amberly Cheng; Jeffery Durney; Anthony Dekermanji
Genetics in Medicine Open, Vol 3, Iss , Pp 102900- (2025)
Academic Journal
Genetics in Medicine Open, Vol 3, Iss , Pp 102923- (2025)
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
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
Colleaux, Laurence; Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle; 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; Munnich, Arnold; Poirier, Karine; Rio, Marlène; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Björn; Chung, Wendy; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia; 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. 141:65-80
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, vol 108, iss 8
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
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K.-G.; Lorenzo, Damaris N.
Nature Genetics. 53(7):1006-1021
Academic Journal
Christina Grassie; Aishwarya Siddharth; Emma Michl; Stephanie Sacharow; Amy Kritzer; Olaf Bodamer; Roy Peake; Patricia Hall; Dietrich Matern; Suzette Huguenin; Marzia Pasquali; Laura Pollard
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100011- (2023)
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[검색어] Kritzer, Amy
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