학술논문
'학술논문'
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1~10
Academic Journal
Bouchereau, Juliette; Wicker, Camille; Mention, Karine; Marbach, Clothilde; Do Cao, Jeremy; Berat, Claire-Marine; Jaroussie, Marianne; Cano, Aline; Gorce, Magali; Garros, Alexa; Kuster, Alice; Hoebeke, Célia; Mayer, Claire; Brassier, Anaïs; Gouya, Laurent; Schrimpf, Cécile; Arnoux, Jean-Baptiste; Schiff, Manuel; Acquaviva-Bourdain, Cécile; Benoist, Jean-François; Courapied, Sandy; Broué, Pierre; Oualha, Mehdi; Douillard, Claire; de Lonlay, Pascale
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; 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; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; 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; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; 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; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Borroto, Maria Carla; Patel, Heena; Srivastava, Siddharth; Swanson, Lindsay C.; Keren, Boris; Whalen, Sandra; Mignot, Cyril; Wang, Xiaodong; Chen, Qian; McLean, Scott; Littlejohn, Rebecca O.; Emrick, Lisa; Attali, Ruben; Lesca, Gaetan; Acquaviva-Bourdain, Cecile; Sarret, Catherine; Seaver, Laurie H.; Platzer, Konrad; Bartolomaeus, Tobias; Wünsch, Cornelia; Fischer, Susann; Rodriguez Barreto, Ana Maria; Granadillo, Jorge L.; Schreiner, Elisabeth; Brunet, Theresa; Schatz, Ulrich A.; Thiffault, Isabelle; Mullegama, Sureni V.; Michaud, Jacques L.; Hamdan, Fadi F.; Rossignol, Elsa; Campeau, Philippe M.
In Pediatric Neurology November 2024 160:45-53
Academic Journal
Gaillard, Ségolène; Roche, Laurent; Deschênes, Georges; Morin, Denis; Vianey-Saban, Christine; Acquaviva-Bourdain, Cécile; Nony, Patrice; Subtil, Fabien; Mercier, Catherine; Cochat, Pierre; Bertholet-Thomas, Aurélia; Cornu, Catherine; Kassai, Behrouz
In Therapies April 2020 75(2):169-173
Academic Journal
Rouzier, Cécile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Céline; Saadi, Samira Ait‐El‐Mkadem; Desquiret‐Dumas, Valérie; Gueguen, Naïg; Fragaki, Konstantina; Amati‐Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean‐Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin‐Negrier, Marie‐Laure; Trimouille, Aurélien; Hardy, Gaëlle; Allouche, Stéphane; Acquaviva‐Bourdain, Cécile; Pagan, Cécile; Lebre, Anne‐Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis‐Flucklinger, Véronique; Procaccio, Vincent
Annals of Clinical and Translational Neurology. June, 2024, Vol. 11 Issue 6, p1478, 14 p.
Academic Journal
Seguy, David; Acquaviva-Bourdain, Cécile; Bouhour, Francoise; Gaignard, Pauline; Slama, Abdelhamid; Roubertie, Agathe; Morales, Raul Juntas; Barth, Magalie; Cintas, Pascal; Bereau, Matthieu; Campana-Salort, Emmanuelle; Ogier de Baulny, Hélène; Schiff, Manuel; Benoist, Jean-François; Corne, Christelle; Joly, Francisca; Corazza, Giovanni; Pagan, Cécile; Hardy, Gaëlle; Besson, Gérard; Lombès, Anne
In Gastroenterology April 2019 156(5):1525-1527
Academic Journal
Kayal, Dima; Sellier-Leclerc, Anne-Laure; Acquaviva-Bourdain, Cécile; de Mul, Aurélie; Cabet, Sarah; Bacchetta, Justine
Academic Journal
Borroto, Maria Carla; Patel, Heena; Srivastava, Siddharth; Swanson, Lindsay C.; Keren, Boris; Whalen, Sandra; Mignot, Cyril; Wang, Xiaodong; Chen, Qian; Rosenfeld, Jill A.; McLean, Scott; Littlejohn, Rebecca O.; Emrick, Lisa; Burrage, Lindsay C.; Attali, Ruben; Lesca, Gaetan; Acquaviva-Bourdain, Cecile; Sarret, Catherine; Seaver, Laurie H.; Platzer, Konrad
Academic Journal
Cochat, Pierre; Cheyssac, Élodie; Sellier-Leclerc, Anne-Laure; Bertholet-Thomas, Aurélia; Bacchetta, Justine; Acquaviva-Bourdain, Cécile
In Bulletin de l'Académie Nationale de Médecine September-December 2017 201(7-9):1361-1375
Academic Journal
Gautheron, Jérémie; Lima, Lara; Akinci, Baris; Zammouri, Jamila; Auclair, Martine; Ucar, Sema Kalkan; Ozen, Samim; Altay, Canan; Bax, Bridget E.; Nemazanyy, Ivan; Lenoir, Véronique; Prip-Buus, Carina; Acquaviva-Bourdain, Cécile; Lascols, Olivier; Fève, Bruno; Vigouroux, Corinne; Noel, Esther; Jéru, Isabelle
Academic Journal
Lefèvre, Charles R.; Collardeau‐Frachon, Sophie; Streichenberger, Nathalie; Berenguer‐Martin, Sophie; Clémenson, Alix; Massardier, Jérôme; Prieur, Fabienne; Laurichesse, Hélène; Laffargue, Fanny; Acquaviva‐Bourdain, Cécile; Froissart, Roseline; Pettazzoni, Magali
Journal of Inherited Metabolic Disease; Mar2024, Vol. 47 Issue 2, p255-269, 15p
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