학술논문
'학술논문'
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Academic Journal
Lavillaureix, Alinoë; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carré, Wilfrid; Guyodo, Hélène; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quélin, Chloé; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hülya; Altunoglu, Umut; En Qi Chong, Angie; Xue, Shifeng; Jeanne, Médéric; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eléonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Mittendorf, Luisa; Abou Jamra, Rami; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christèle; Odent, Sylvie; Dupé, Valérie
In Genetics in Medicine July 2024 26(7)
Academic Journal
In Journal of Biomedical Informatics September 2024 157
Academic Journal
Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Médéric; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Züchner, Stephan; Acosta, Maria T.; Adams, David R.; Afzali, Ben; Allworth, Aimee; Alvarez, Raquel L.; Alvey, Justin; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Borja, Nicholas; Botto, Lorenzo; Briere, Lauren C.; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corner, Brian; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; D' Souza, Precilla; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Ezell, Kimberly; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gonzalez, Joanna M.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neil; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Yan; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latchman, Kumarie; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie C.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Neumann, Serena; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Peart, Léshon; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Rebelo, Adriana; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sampson, Jacinda B.; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Carson A.; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Tan, Amelia L.M.; Tarakad, Arjun; Taylor, Herman; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe
Annals of Clinical and Translational Neurology. April, 2024, Vol. 11 Issue 4, p1075, 1079 p.
Academic Journal
Chung, Wendy; Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise; Suchy, Sharon; Bergtrup, Amber; Langley, Katherine; Amendola, Laura; Boyd, Brenna; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian; Coffey, Alison; Devaney, Joseph; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsey; Gyimah, Awura; Hernan, Rebecca; Hofherr, Sean; Hruska, Kathleen; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, Aaron; Kavus, Haluk; Leibel, Rudolph; McWalter, Kirsty; Monaghan, Kristin; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shapiro, Natasha; Sicko, Robert; Storm, Samuel; Torene, Rebecca; Williams, Olatundun; Wynn, Julia; Taft, Ryan; Kruszka, Paul; Caggana, Michele
In Genetics in Medicine Open 2024 2 Supplement 1
The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration.
Academic Journal
Haouari, Shanez; Vourc'h, Patrick; Jeanne, Médéric; Marouillat, Sylviane; Veyrat-Durebex, Charlotte; Lanznaster, Débora; Laumonnier, Frédéric; Corcia, Philippe; Blasco, Hélène; Andres, Christian R.
Academic Journal
Nakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, Shinji
Academic Journal
Lavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie
Academic Journal
Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia MS; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sébastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric
American Journal of Human Genetics. 108(5)
Civit, Antoine; Gueguen, Paul; Blasco, Helene; Benz-de-Bretagne, Isabelle; Lebredonchel, Élodie; Dingeo, Giulia; Jeanne, Médéric; Rouxel, Sophie; Tardieu, Marine; Raynor, Alexandre; Labarthe, François; Bruneel, Arnaud; Goetz, Violette
In Clinica Chimica Acta 1 November 2023 551
Academic Journal
Dohrn, Maike F.; Bademci, Guney; Rebelo, Adriana P.; Jeanne, Mederic; Borja, Nicholas A.; Beijer, Danique; Danzi, Matt C.; Bivona, Stephanie A.; Gueguen, Paul; Zafeer, Mohammad F.; Tekin, Mustafa; Zuchner, Stephan; Undiagnosed Dis Network
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