학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
In Genetics in Medicine Open 2024 2
Academic Journal
Klee, Eric W.; Cousin, Margot A.; Pinto e Vairo, Filippo; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Summer Bolster, Jolene M.; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Ferrer, Alejandro; Duffy, Patrick; Olson, Rory J.; Meiners, Michael A.; Schultz-Rogers, Laura; Macke, Erica L.; Safgren, Stephanie; Morales-Rosado, Joel A.; Cousin, Margot A.; Oliver, Gavin R.; Rider, David; Williams, Megan; Pichurin, Pavel N.; Deyle, David R.; Morava, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klass J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Kaiwar, Charu; Vitek, Carolyn R.; McAllister, Tammy M.; Wick, Myra J.; Schimmenti, Lisa A.; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e; Klee, Eric W.
Human Genetics. :1-18
Brodsky, Michael C.; Olson, Rory J.; Asumda, Faizal Z.; Lopour, Madeline Q.R.; Schimmenti, Lisa A.; Klee, Eric W.
In American Journal of Ophthalmology Case Reports June 2023 30
Academic Journal
Stegmann, Jil D.; Kalanithy, Jeshurun C.; Dworschak, Gabriel C.; Ishorst, Nina; Mingardo, Enrico; Lopes, Filipa M.; Ho, Yee Mang; Grote, Phillip; Lindenberg, Tobias T.; Yilmaz, Oeznur; Channab, Khadija; Seltzsam, Steve; Shril, Shirlee; Hildebrandt, Friedhelm; Boschann, Felix; Heinen, Andre; Jolly, Angad; Myers, Katherine; Mcbride, Kim; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Capra, Valeria; Accogli, Andrea; Maitz, Silvia; Spano, Alice; Olson, Rory J.; Klee, Eric W.; Lanpher, Brendan C.; Jang, Se Song; Chae, Jong-Hee; Steinbauer, Philipp; Rieder, Dietmar; Janecke, Andreas R.; Vodopiutz, Julia; Vogel, Ida; Blechingberg, Jenny; Cohen, Jennifer L.; Riley, Kacie; Klee, Victoria; Walsh, Laurence E.; Begemann, Matthias; Elbracht, Miriam; Eggermann, Thomas; Stoppe, Arzu; Stuurman, Kyra; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Mulhern, Maureen S.; Sands, Tristan T.; Cytrynbaum, Cheryl; Weksberg, Rosanna; Isidori, Federica; Pippucci, Tommaso; Severi, Giulia; Montanari, Francesca; Kruer, Michael C.; Bakhtiari, Somayeh; Darvish, Hossein; Reutter, Heiko; Hagelueken, Gregor; Geyer, Matthias; Woolf, Adrian S.; Posey, Jennifer E.; Lupski, James R.; Odermatt, Benjamin; Hilger, Alina C.
Periodical
Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S.; Fenger, Christina D.; Klint Nielsen, Jens Erik; Datta, Anita N.; Gorman, Kathleen M.; King, Mary D.; Linhares, Natalia D.; Burton, Barbara K.; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J.; Muthusamy, Karthik; Schimmenti, Lisa A.; Starnes, Keith; Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Laššuthová, Petra; Jahodová, Alena; Porter, Brenda E.; Couque, Nathalie; Colin, Estelle; Prouteau, Clément; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E.; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E.; Mefford, Heather C.; Carvill, Gemma L.
Neurology (Ovid); February 2023, Vol. 100 Issue: 6 pe603-e615, 13p
Academic Journal
Safgren, Stephanie L.; Olson, Rory J.; Pinto e Vairo, Filippo; Bothun, Erick D.; Hanna, Christian; Klee, Eric W.; Schimmenti, Lisa A.
American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p919-925, 7p
Academic Journal
Ciolfi, Andrea; Foroutan, Aidin; Capuano, Alessandro; Pedace, Lucia; Travaglini, Lorena; Pizzi, Simone; Andreani, Marco; Miele, Evelina; Invernizzi, Federica; Reale, Chiara; Panteghini, Celeste; Iascone, Maria; Niceta, Marcello; Gavrilova, Ralitza H.; Schultz-Rogers, Laura; Agolini, Emanuele; Bedeschi, Maria Francesca; Prontera, Paolo; Garibaldi, Matteo; Galosi, Serena; Leuzzi, Vincenzo; Soliveri, Paola; Olson, Rory J.; Zorzi, Giovanna S.; Garavaglia, Barbara M.; Tartaglia, Marco; Sadikovic, Bekim
Clinical Epigenetics. December 2021, Vol. 13 Issue 1
Academic Journal
Morales‐Rosado, Joel A.; Singh, Herchran; Olson, Rory J.; Larsen, Brandon T.; Hager, Megan M.; Klee, Eric W.; Dhamija, Radhika
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1883-1887, 5p
Academic Journal
Schnur, Rhonda E.; Yousaf, Sairah; Liu, James; Chung, Wendy K.; Rhodes, Lindsay; Marble, Michael; Zambrano, Regina M.; Sobreira, Nara; Jayakar, Parul; Pierpont, Mary Ella; Schultz, Matthew J.; Pichurin, Pavel N.; Olson, Rory J.; Graham, Gail E.; Osmond, Matthew; Contreras-García, Gustavo A.; Campo-Neira, Karina A.; Peñaloza-Mantilla, Camilo A.; Flage, Mark; Kuppa, Srikar; Navarro, Karina; Sacoto, Maria J. Guillen; Wentzensen, Ingrid M.; Scarano, Maria I.; Juusola, Jane; Prada, Carlos E.; Hufnagel, Robert B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(9):1624-1635
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[AR] Olson, Rory J.
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