학술논문
'학술논문'
에서 검색결과 42건 | 목록
1~10
Academic Journal
Periodical
Murrell, Jill R.; Nesbitt, Addie May I.; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D.; Dulik, Matthew C.; Conlin, Laura K.; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H.; Bedoukian, Emma C.; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M.; Deardorff, Matthew A.; Medne, Livija; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.
The Journal of Molecular Diagnostics; March 2022, Vol. 24 Issue: 3 p274-286, 13p
Periodical
Leung, Marco L.; Ji, Jianling; Baker, Samuel; Buchan, Jillian G.; Sivakumaran, Theru A.; Krock, Bryan L.; Hutchins, Rebecca; Bayrak-Toydemir, Pinar; Pfeifer, John; Cremona, Maria Laura; Funke, Birgit; Santani, Avni B.
The Journal of Molecular Diagnostics; February 2022, Vol. 24 Issue: 2 p177-188, 12p
Academic Journal
Matalon, Dena R.; Stevenson, David A.; Bhoj, Elizabeth J.; Santani, Avni B.; Keena, Beth; Cohen, Meryl S.; Lin, Angela E.; Sheppard, Sarah E.; Zackai, Elaine H.
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1486-1493, 8p
Academic Journal
Strande, Natasha T.; Riggs, Erin Rooney; Buchanan, Adam H.; Ceyhan-Birsoy, Ozge; DiStefano, Marina; Dwight, Selina S.; Goldstein, Jenny; Ghosh, Rajarshi; Seifert, Bryce A.; Sneddon, Tarn P.; Wright, Matt W.; Milko, Laura V.; Cherry, J. Michael; Giovanni, Monica A.; Murray, Michael E.; O'Daniel, Julianne M.; Ramos, Erin M.; Santani, Avni B.; Scott, Alan E.; Plon, Sharon E.; Rehm, Heidi L.; Martin, Christa L.; Berg, Jonathan S.
American Journal of Human Genetics. June, 2017, Vol. 100 Issue 6, p895, 12 p.
Academic Journal
Ahrens-Nicklas, Rebecca C.; Umanah, George K.E.; Sondheimer, Neal; Deardorff, Matthew A.; Wilkens, Alisha B.; Conlin, Laura K.; Santani, Avni B.; Nesbitt, Addie; Juulsola, Jane; Ma, Erica; Dawson, Ted M.; Dawson, Valina L.; Marsh, Eric D.
Neurology: Genetics. Feb 01, 2017 3(1)
Academic Journal
Schanze, Ina; Bunt, Jens; Lim, Jonathan W.C.; Schanze, Denny; Dean, Ryan J.; Alders, Marielle; Blanchet, Patricia; Attie-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J.; Cho, Megan T.; Dobyns, William B.; Donnai, Dian; Douglas, Jessica; Earl, Dawn L.; Edwards, Timothy J.; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gerard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F.; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M.; Morgan, Sian M.; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T.; Puechberty, Jacques; Reinstein, Eyal; Riviere, Jean-Baptiste; Santani, Avni B.; Schneider, Anouck; Sherr, Elliott H.; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M.; Zenker, Martin; Richards, Linda J.
American Journal of Human Genetics. Nov 1, 2018, Vol. 103 Issue 5, 752
Academic Journal
Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M.A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane
American Journal of Human Genetics. August 2, 2018, Vol. 103 Issue 2, 305
Academic Journal
Harrison, Steven M.; Dolinksy, Jill S.; Chen, Wenjie; Collins, Christin D.; Das, Soma; Deignan, Joshua L.; Garber, Kathryn B.; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E.; Koskenvuo, Juha W.; Lee, Hane; Mao, Rong; Mar‐Heyming, Rebecca; McFaddin, Andrew S.; Moyer, Krista; Nagan, Narasimhan; Rentas, Stefan; Santani, Avni B.; Seppälä, Eija H.
Human Mutation; Nov2018, Vol. 39 Issue 11, p1641-1649, 9p
Academic Journal
Ritter, Alyssa L.; McDougall, Carey; Skraban, Cara; Medne, Livija; Bedoukian, Emma C.; Asher, Stephanie B.; Balciuniene, Jorune; Campbell, Colleen D.; Baker, Samuel W.; Denenberg, Elizabeth H.; Mazzola, Sarah; Fiordaliso, Sarah K.; Krantz, Ian D.; Kaplan, Paige; Ierardi‐Curto, Lynne; Santani, Avni B.; Zackai, Elaine H.; Izumi, Kosuke
American Journal of Medical Genetics. Part A; Sep2018, Vol. 176 Issue 9, p1890-1896, 7p
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[AR] Santani, Avni B.
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