학술논문
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1~10
Academic Journal
Mattioli, Francesca; Worpenberg, Lina; Li, Cai-Tao; Ibrahim, Nazia; Naz, Shagufta; Sharif, Saima; Firouzabadi, Saghar G.; Vosoogh, Shohreh; Saraeva-Lamri, Radoslava; Raymond, Laure; Trujillo, Carlos; Guex, Nicolas; Antonarakis, Stylianos E.; Ansar, Muhammad; Darvish, Hossein; Liu, Ru-Juan; Roignant, Jean-Yves; Reymond, Alexandre
In Genetics in Medicine September 2023 25(9)
Academic Journal
Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M.; Duan, Ruizhi; Fatih, Jawid M.; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N.; Muzny, Donna M.; Koch, André; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A.; Dietrich, Jennifer E.; Van den Veyver, Ignatia B.; Dimas, Antigone S.; Brucker, Sara; Sutton, V. Reid; Gibbs, Richard A.; Antonarakis, Stylianos E.; Wu, Nan; Coban-Akdemir, Zeynep H.; Zhu, Lan; Posey, Jennifer E.; Lupski, James R.
In Human Genetics and Genomics Advances 13 July 2023 4(3)
Academic Journal
Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M.R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O’Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Essien Umanah, George K.; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 2 March 2023 110(3):499-515
Academic Journal
Cediel, Maria Lucia; Stawarski, Michal; Blanc, Xavier; Nosková, Lenka; Magner, Martin; Platzer, Konrad; Gburek-Augustat, Janina; Baldridge, Dustin; Constantino, John N.; Ranza, Emmanuelle; Bettler, Bernhard; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 6 October 2022 109(10):1885-1893
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Björn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O’Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Chao, Hsiao-Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Deardorff, Matthew; Falk, Marni; Hassey, Kelly; Sullivan, Kathleen; Vanderver, Adeline; Goldstein, David B.; Cope, Heidi; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Smith, Edward C.; Sullivan, Jennifer A.; Tan, Queenie K.-G.; Walley, Nicole M.; Agrawal, Pankaj B.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Cooper, Cynthia M.; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Kelley, Emily G.; Kohane, Isaac S.; LeBlanc, Kimberly; McCray, Alexa T.; Nagy, Anna; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Carrasquillo, Olveen; Chang, Ta Chen Peter; Forghani, Irman; Grajewski, Alana; Isasi, Rosario; Lam, Byron; Levitt, Roy; Liu, Xue Zhong; McCauley, Jacob; Sacco, Ralph; Saporta, Mario; Schaechter, Judy; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Zuchner, Stephan; Colley, Heather A.; Dayal, Jyoti G.; Eckstein, David J.; Findley, Laurie C.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; LaMoure, Grace L.; Goldrich, Madison P.; Urv, Tiina K.; Doss, Argenia L.; Acosta, Maria T.; Bonnenmann, Carsten; D’Souza, Precilla; Draper, David D.; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Nath, Avi; Novacic, Donna; Pusey, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Baker, Eva; Burke, Elizabeth A.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Yang, John; Power, Bradley; Gochuico, Bernadette; Huryn, Laryssa; Latham, Lea; Davis, Joie; Mosbrook-Davis, Deborah; Rossignol, Francis; Ben Solomon; MacDowall, John; Thurm, Audrey; Zein, Wadih; Yousef, Muhammad; Adam, Margaret; Amendola, Laura; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Berg-Rood, Beverly; Blue, Elizabeth; Boyd, Brenna; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Golden-Grant, Katie; Hahn, Sihoun; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Lam, Christina; Maravilla, Kenneth; Mefford, Heather; Merritt, J. Lawrence; Mirzaa, Ghayda; Nickerson, Deborah; Raskind, Wendy; Rosenwasser, Natalie; Scott, C. Ron; Sun, Angela; Sybert, Virginia; Wallace, Stephanie; Wener, Mark; Wenger, Tara; Ashley, Euan A.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fernandez, Liliana; Fisher, Paul G.; Fresard, Laure; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Kravets, Elijah; Majcherska, Marta M.; Martin, Beth A.; Marwaha, Shruti; McCormack, Colleen E.; Raja, Archana N.; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Tucker, Brianna M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Brown, Gabrielle; Butte, Manish J.; Dell’Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Gutierrez, Irma; Huang, Alden; Krakow, Deborah; Lee, Hane; Loo, Sandra K.; Mak, Bryan C.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Signer, Rebecca H.; Sinsheimer, Janet S.; Wan, Jijun; Wang, Lee-kai; Perry, Katherine Wesseling; Woods, Jeremy D.; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Pace, Laura; Longo, Nicola; Marth, Gabor; Moretti, Paolo; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Brokamp, Elly; Duncan, Laura; Hamid, Rizwan; Kennedy, Jennifer; Kozuira, Mary; Newman, John H.; PhillipsIII, John A.; Rives, Lynette; Robertson, Amy K.; Solem, Emily; Cogan, Joy D.; Cole, F. Sessions; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Rush, Eric; Pitt, Geoffrey S.; Au, Ping Yee Billie
In Genetics in Medicine October 2021 23(10):1922-1932
Academic Journal
Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L.; McLaughlin, Heather M.; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S.; Baranano, Kristin; Ismail, Fatima Y.; Patel, Millan S.; Lehman, Anna; Edmondson, Andrew C.; Nagy, Amanda; Walker, Melissa A.; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E.; Mancini, Grazia M.S.; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T.; Stettner, Georg M.; Wagner, Matias; Wortmann, Saskia B.; Kini, Usha; Brady, Angela F.; Stals, Karen L.; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D.; Antonarakis, Stylianos E.; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.; Murakami, Yoshiko
In Genetics in Medicine October 2021 23(10):1873-1881
Academic Journal
Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E.
In Seizure: European Journal of Epilepsy September 2015 31:12-18
Academic Journal
Coppola, Antonietta; Romito, Antonio; Borel, Christelle; Gehrig, Corinne; Gagnebin, Maryline; Falconnet, Emilie; Izzo, Antonella; Altucci, Lucia; Banfi, Sandro; Antonarakis, Stylianos E.; Minchiotti, Gabriella; Cobellis, Gilda
In Stem Cell Research March 2014 12(2):323-337
Academic Journal
Nikolaev, Sergey I.; Santoni, Federico; Vannier, Anne; Falconnet, Emilie; Giarin, Emanuela; Basso, Giuseppe; Hoischen, Alexander; Veltman, Joris A.; Groet, Jurgen; Nizetic, Dean ; Antonarakis, Stylianos E.
In Blood 25 July 2013 122(4):554-561
Academic Journal
Schneider, Maude; Van der Linden, Martial; Glaser, Bronwyn; Rizzi, Eleonora; Dahoun, Sophie P.; Hinard, Christine; Bartoloni, Lucia; Antonarakis, Stylianos E.; Debbané, Martin; Eliez, Stephan
In Psychiatry Research 30 April 2012 196(2-3):277-284
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[AR] Antonarakis, Stylianos E.
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