학술논문
'학술논문'
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1~10
Academic Journal
Bocca, Cinzia; Kouassi-Nzoughet, Judith; Chao de la Barca, Juan Manuel; Bonneau, Dominique; Verny, Christophe; Gohier, Philippe; Orssaud, Christophe; Reynier, Pascal
Acta Neuropathologica Communications. 12(1)
Academic Journal
Tessarech, Marine; Friocourt, Gaëlle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Díaz, Rodrigo Muñoz; Mignot, Cyril; Keren, Boris; Héron, Bénédicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Jamra, Rami Abou; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnès; Bris, Céline; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle
In Genetics in Medicine May 2024 26(5)
Academic Journal
Van Haute, Lindsey; O’Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmüller, Hanns; Minczuk, Michal; Horvath, Rita
Nature Communications. 14(1)
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Academic Journal
Rotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel
Academic Journal
Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
European Journal of Human Genetics. 31(4):461-468
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)
Academic Journal
Faqeih, Eissa A.; Alghamdi, Malak Ali; Almahroos, Marwa A.; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M.; Clément, Prouteau; Calame, Daniel G.; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R.; Pastore, Annalisa; Peake, Roy W.A.; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A.M.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Médéric; Tran Mau-Them, Frédéric; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poë, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Céline; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Émilie; Delanne, Julian; Nambot, Sophie; Juven, Aurélien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sébastien; Fradin, Mélanie; Lavillaureix, Alinoë; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clément; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-François; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel
European Journal of Human Genetics. 30(5):567-576
Academic Journal
Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie MHF; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; CAUSES Study; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie
American journal of human genetics. 104(3)
Academic Journal
Addor, Marie-Claude; Andrieux, Joris; Arveiler, Benoît; Baujat, Geneviève; Sloan-Béna, Frédérique; Belfiore, Marco; Bonneau, Dominique; Bouquillon, Sonia; Boute, Odile; Brusco, Alfredo; Busa, Tiffany; Caberg, Jean-Hubert; Campion, Dominique; Colombert, Vanessa; Cordier, Marie-Pierre; David, Albert; Debray, François-Guillaume; Delrue, Marie-Ange; Doco-Fenzy, Martine; Dunkhase-Heinl, Ulrike; Edery, Patrick; Fagerberg, Christina; Faivre, Laurence; Forzano, Francesca; Genevieve, David; Gérard, Marion; Giachino, Daniela; Guichet, Agnès; Guillin, Olivier; Héron, Delphine; Isidor, Bertrand; Jacquette, Aurélia; Jaillard, Sylvie; Journel, Hubert; Keren, Boris; Lacombe, Didier; Lebon, Sébastien; Le Caignec, Cédric; Lemaître, Marie-Pierre; Lespinasse, James; Mathieu-Dramart, Michèle; Mercier, Sandra; Mignot, Cyril; Missirian, Chantal; Petit, Florence; Pilekær Sørensen, Kristina; Pinson, Lucile; Plessis, Ghislaine; Prieur, Fabienne; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sanlaville, Damien; Schlott Kristiansen, Britta; Schluth-Bolard, Caroline; Till, Marianne; Van Haelst, Mieke; Van Maldergem, Lionel; Alupay, Hanalore; Aaronson, Benjamin; Ackerman, Sean; Ankenman, Katy; Anwar, Ayesha; Atwell, Constance; Bowe, Alexandra; Beaudet, Arthur L.; Benedetti, Marta; Berg, Jessica; Berman, Jeffrey; Berry, Leandra N.; Bibb, Audrey L.; Blaskey, Lisa; Brennan, Jonathan; Brewton, Christie M.; Buckner, Randy; Bukshpun, Polina; Burko, Jordan; Cali, Phil; Cerban, Bettina; Chang, Yishin; Cheong, Maxwell; Chow, Vivian; Chu, Zili; Chudnovskaya, Darina; Cornew, Lauren; Dale, Corby; Dell, John; Dempsey, Allison G.; Deschamps, Trent; Earl, Rachel; Edgar, James; Elgin, Jenna; Olson, Jennifer Endre; Evans, Yolanda L.; Findlay, Anne; Fischbach, Gerald D.; Fisk, Charlie; Fregeau, Brieana; Gaetz, Bill; Gaetz, Leah; Garza, Silvia; Gerdts, Jennifer; Glenn, Orit; Gobuty, Sarah E.; Golembski, Rachel; Greenup, Marion; Heiken, Kory; Hines, Katherine; Hinkley, Leighton; Jackson, Frank I.; Jenkins, Julian, III; Jeremy, Rita J.; Johnson, Kelly; Kanne, Stephen M.; Kessler, Sudha; Khan, Sarah Y.; Ku, Matthew; Kuschner, Emily; Laakman, Anna L.; Lam, Peter; Lasala, Morgan W.; Lee, Hana; LaGuerre, Kevin; Levy, Susan; Cavanagh, Alyss Lian; Llorens, Ashlie V.; Campe, Katherine Loftus; Luks, Tracy L.; Marco, Elysa J.; Martin, Stephen; Martin, Alastair J.; Marzano, Gabriela; Masson, Christina; McGovern, Kathleen E.; McNally Keehn, Rebecca; Miller, David T.; Miller, Fiona K.; Moss, Timothy J.; Murray, Rebecca; Nagarajan, Srikantan S.; Nowell, Kerri P.; Owen, Julia; Paal, Andrea M.; Packer, Alan; Page, Patricia Z.; Paul, Brianna M.; Peters, Alana; Peterson, Danica; Poduri, Annapurna; Pojman, Nicholas J.; Porche, Ken; Proud, Monica B.; Qasmieh, Saba; Ramocki, Melissa B.; Reilly, Beau; Roberts, Timothy P.L.; Shaw, Dennis; Sinha, Tuhin; Smith-Packard, Bethanny; Gallagher, Anne Snow; Swarnakar, Vivek; Thieu, Tony; Triantafallou, Christina; Vaughan, Roger; Wakahiro, Mari; Wallace, Arianne; Ward, Tracey; Wenegrat, Julia; Wolken, Anne; Martin-Brevet, Sandra; Rodríguez-Herreros, Borja; Nielsen, Jared A.; Moreau, Clara; Modenato, Claudia; Maillard, Anne M.; Pain, Aurélie; Richetin, Sonia; Jønch, Aia E.; Qureshi, Abid Y.; Zürcher, Nicole R.; Conus, Philippe; Chung, Wendy K.; Sherr, Elliott H.; Spiro, John E.; Kherif, Ferath; Beckmann, Jacques S.; Hadjikhani, Nouchine; Reymond, Alexandre; Buckner, Randy L.; Draganski, Bogdan; Jacquemont, Sébastien
In Biological Psychiatry 15 August 2018 84(4):253-264
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