학술논문
'학술논문'
에서 검색결과 17건 | 목록
1~10
Academic Journal
Yan Liang, Nicole Si; Costain, Gregory; D'Gama, Alissa; McTague, Amy; Howell, Katherine; Chau, Vann; Mulhern, Sarah; Poduri, Annapurna; Scheffer, Ingrid; Sheidley, Beth; Curtis, Meredith; Higginbotham, Edward; Khan, Tayyaba; McRae, Lyndsey; Wiltrout, Kimberly; Hayeems, Robin; Jain, Puneet; Lunke, Sebastian; Marshall, Christian; Chitty, Lyn; Rockowitz, Shira; Stark, Zornitza; White, Susan
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B.; Prokisch, Holger
Human Mutation; Mar2022, Vol. 43 Issue 3, p403-419, 17p
Periodical
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E M; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F; Michaud, Jacques L; Lewis, Ann J; Zweier, Christiane; Reis, André; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen; Brilstra, Eva H; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H; Rudy, Natasha L; Dobyns, William B; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T; Klee, Eric W; Piton, Amelie; Gerard, Benedicte
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p
Academic Journal
Rockowitz, Shira; LeCompte, Nicholas; Carmack, Mary; Quitadamo, Andrew; Wang, Lily; Park, Meredith; Knight, Devon; Sexton, Emma; Smith, Lacey; Sheidley, Beth; Field, Michael; Holm, Ingrid A.; Brownstein, Catherine A.; Agrawal, Pankaj B.; Kornetsky, Susan; Poduri, Annapurna; Snapper, Scott B.; Beggs, Alan H.; Yu, Timothy W.; Williams, David A.
NPJ Genomic Medicine; 7/6/2020, Vol. 5 Issue 1, p1-12, 12p
Academic Journal
Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M.; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C.; Ellis, Colin A.; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; de Goes, Fernanda Veiga; El Achkar, Christelle M.; Doering, Jan Henje; Furia, Francesca; Garcia-Cazorla, Angeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Rigby, Charlene Son; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Moller, Rikke S.; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo
Academic Journal
Brownstein, Catherine A.; Goldstein, Richard D.; Thompson, Christopher H.; Haynes, Robin L.; Giles, Emma; Sheidley, Beth; Bainbridge, Matthew; Haas, Elisabeth A.; Mena, Othon J.; Lucas, Jonathan; Schaber, Bethann; Holm, Ingrid A.; George, Alfred L.; Kinney, Hannah C.; Poduri, Annapurna H.
Academic Journal
Koh, Hyunyong; Smith, Lacey; Podury, Archana; Chourasia, Nitish; Sexton, Emma; Knight, Devon; Pinsky, Rebecca; Achkar, Christelle; Olson, Heather; Rockowitz, Shira; Sheidley, Beth; Poduri, Annapurna
Academic Journal
Berkovic, Samuel F.; Goldstein, David B.; Heinzen, Erin L.; Laughlin, Brandon L.; Lowenstein, Daniel H.; Lubbers, Laura; Stewart, Randall; Whittemore, Vicky; Angione, Kaitlin; Bazil, Carl W.; Bier, Louise; Bluvstein, Judith; Brimble, Elise; Campbell, Colleen; Cavalleri, Gianpiero; Chambers, Chelsea; Choi, Hyunmi; Cilio, Maria Roberta; Ciliberto, Michael; Cornes, Susannah; Delanty, Norman; Demarest, Scott; Devinsky, Orrin; Dlugos, Dennis; Dubbs, Holly; Dugan, Patricia; Ernst, Michelle E.; Gibbons, Melissa; Goodkin, Howard P.; Helbig, Ingo; Jansen, Laura; Johnson, Kaleas; Joshi, Charuta; Lippa, Natalie C.; Marsh, Eric; Martinez, Alejandro; Millichap, John; Mulhern, Maureen S.; Numis, Adam; Park, Kristen; Pippucci, Tommaso; Poduri, Annapurna; Porter, Brenda; Regan, Brigid; Sands, Tristan T.; Scheffer, Ingrid E.; Schreiber, John M.; Sheidley, Beth; Singhal, Nilika; Smith, Lacey; Sullivan, Joseph; Taylor, Alan; Tolete, Patricia; Afgani, Tahseen M.; Aggarwal, Vimla; Burgess, Rosemary; Dixon-Salazar, Tracy; Hemati, Parisa; Milder, Julie; Petrovski, Slave; Revah-Politi, Anya; Stong, Nicholas; Epilepsy Genetics Initiative; EGI Steering Comm; EGI Enrollment Grp
Periodical
Weckhuysen, Sarah; Ivanovic, Vanja; Hendrickx, Rik; Van Coster, Rudy; Hjalgrim, Helle; Møller, Rikke S.; Grønborg, Sabine; Schoonjans, An-Sofie; Ceulemans, Berten; Heavin, Sinead B.; Eltze, Christin; Horvath, Rita; Casara, Gianluca; Pisano, Tiziana; Giordano, Lucio; Rostasy, Kevin; Haberlandt, Edda; Albrecht, Beate; Bevot, Andrea; Benkel, Ira; Syrbe, Steffan; Sheidley, Beth; Guerrini, Renzo; Poduri, Annapurna; Lemke, Johannes R.; Mandelstam, Simone; Scheffer, Ingrid; Angriman, Marco; Striano, Pasquale; Marini, Carla; Suls, Arvid; De Jonghe, Peter
Neurology (Ovid); November 2013, Vol. 81 Issue: 19 p1697-1703, 7p
Academic Journal
Brownstein, Catherine A.; Goldstein, Richard D.; Thompson, Christopher H.; Haynes, Robin L.; Giles, Emma; Sheidley, Beth; Bainbridge, Matthew; Haas, Elisabeth A.; Mena, Othon J.; Lucas, Jonathan; Schaber, Bethann; Holm, Ingrid A.; George, Alfred L.; Kinney, Hannah C.; Poduri, Annapurna H.
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