학술논문
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'학술논문'
에서 검색결과 155건 | 목록
1~20
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Jensen, Matthew ; Smolen, Corrine ; Tyryshkina, Anastasia ; Pizzo, Lucilla ; Sun, Jiawan ; Noss, Serena ; Banerjee, Deepro ; Oetjens, Matthew ; Shimelis, Hermela ; Taylor, Cora M. ; Pounraja, Vijay Kumar ; Song, Hyebin ; Rohan, Laura ; Huber, Emily ; El Khattabi, Laila ; van de Laar, Ingrid ; Tadros, Rafik ; Bezzina, Connie R. ; van Slegtenhorst, Marjon ; Kammeraad, Janneke ; Prontera, Paolo ; Caberg, Jean-Hubert ; Fraser, Harry ; Banka, Siddharth ; Van Dijck, Anke ; Schwartz, Charles ; Voorhoeve, Els ; Callier, Patrick ; Mosca-Boidron, Anne-Laure ; Marle, Nathalie ; Lefebvre, Mathilde ; Pope, Kate ; Snell, Penny ; Boys, Amber ; Lockhart, Paul J. ; Ashfaq, Myla ; McCready, Elizabeth ; Nowacyzk, Margaret ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Bruccheri, Maria Grazia ; Mandarà, Giuseppa Maria Luana ; Mari, Francesca ; Privitera, Flavia ; Longo, Ilaria ; Curró, Aurora ; Renieri, Alessandra ; Keren, Boris ; Charles, Perrine ; Cuinat, Silvestre ; Nizon, Mathilde ; Pichon, Olivier ; Bénéteau, Claire ; Stoeva, Radka ; Martin-Coignard, Dominique ; Blesson, Sophia ; Le Caignec, Cedric ; Mercier, Sandra ; Vincent, Marie ; Martin, Christa L. ; Mannik, Katrin ; Reymond, Alexandre ; Faivre, Laurence ; Sistermans, Erik ; Kooy, R. Frank ; Amor, David J. ; Romano, Corrado ; Andrieux, Joris ; Girirajan, Santhosh
In Cell September 2025
Academic Journal
Chauvet-Gélinier, J.-C.; Mosca-Boidron, A.-L.; Lemogne, C.; Ragot, S.; Forestier, N.; Callegarin, D.; Allard, C.; Rebaï, A.; Bouillet, B.; Ponavoy, E.; Simoneau, I.; Petit, J.-M.; Bondolfi, G.; Callier, P.; Trojak, B.; Bonin, B.; Vergès, B.
Diabetes & Metabolism. 45(6):582-585
Academic Journal
Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric ; Moutton, Sébastien ; Nambot, Sophie ; Grisval, Margot ; Houcinat, Nada ; Kuentz, Paul ; Sorlin, Arthur ; Callier, Patrick ; Jean-Marcais, Nolwenn ; Mosca-Boidron, Anne-Laure ; Mau-Them, Frédéric Tran ; Denommé-Pichon, Anne-Sophie ; Vitobello, Antonio ; Lehalle, Daphné ; El Chehadeh, Salima ; Francannet, Christine ; Lebrun, Marine ; Lambert, Laetitia ; Jacquemont, Marie-Line ; Gerard-Blanluet, Marion ; Alessandri, Jean-Luc ; Willems, Marjolaine ; Thevenon, Julien ; Chouchane, Mondher ; Darmency, Véronique ; Fatus-Fauconnier, Clémence ; Gay, Sébastien ; Bournez, Marie ; Masurel, Alice ; Leguy, Vanessa ; Duffourd, Yannis ; Philippe, Christophe ; Feillet, François ; Faivre, Laurence ; Thauvin-Robinet, Christel
In Molecular Genetics and Metabolism Reports December 2021 29
Academic Journal
Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J.M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
In Genetics in Medicine April 2019 21(4):816-825
Academic Journal
Kate Wolfe; Andrew McQuillin; Viola Alesi; Elise Boudry Labis; Peter Cutajar; Bruno Dallapiccola; Maria Lisa Dentici; Anne Dieux‐Coeslier; Benedicte Duban‐Bedu; Tina Duelund Hjortshøj; Himanshu Goel; Sara Loddo; Deborah Morrogh; Anne‐Laure Mosca‐Boidron; Antonio Novelli; Laurence Olivier‐Faivre; Jennifer Parker; Michael J. Parker; Christine Patch; Anna L. Pelling; Thomas Smol; Zeynep Tümer; Olivier Vanakker; Arie van Haeringen; Clémence Vanlerberghe; Andre Strydom; David Skuse; Nick Bass
Am J Med Genet B Neuropsychiatr Genet
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, ML , Dieux-Coeslier, A, Duban-Bedu, B, Duelund Hjortshøj, T, Goel, H, Loddo, S, Morrogh, D, Mosca -Boidron , A-L , Novelli, A, Olivier-Faivre, L , Parker, J, Parker, M J, Patch, C, Pelling, A L , Smol, T, Tümer, Z, Vanakker, O, van Haeringen, A, Vanlerberghe, C, Strydom, A, Skuse, D & Bass, N 2018, ' Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 177, no. 4, pp. 397-405 . https://doi.org/10.1002/ajmg.b.32627
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, M
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Academic Journal
Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; CAUSES Study; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C
European Journal of Human Genetics. 28:770-782
Academic Journal
Carapito, Raphael; Konantz, Martina; Paillard, Catherine; Miao, Zhichao; Pichot, Angélique; Leduc, Magalie S.; Yang, Yaping; Bergstrom, Katie L.; Mahoney, Donald H.; Shardy, Deborah L.; Alsaleh, Ghada; Naegely, Lydie; Kolmer, Aline; Paul, Nicodème; Hanauer, Antoine; Rolli, Véronique; Müller, Joëlle S.; Alghisi, Elisa; Sauteur, Loïc; Macquin, Cécile; Morlon, Aurore; Sancho, Consuelo Sebastia; Amati-Bonneau, Patrizia; Procaccio, Vincent; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Osmani, Naël; Lefebvre, Olivier; Goetz, Jacky G.; Unal, Sule; Akarsu, Nurten A.; Radosavljevic, Mirjana; Chenard, Marie-Pierre; Rialland, Fanny; Grain, Audrey; Béné, Marie-Christine; Eveillard, Marion; Vincent, Marie; Guy, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Thevenon, Julien; Myers, Kasiani; Fleming, Mark D.; Shimamura, Akiko; Bottollier-Lemallaz, Elodie; Westhof, Eric; Lengerke, Claudia; Isidor, Bertrand; Bahram, Seiamak
Journal of Clinical Investigation. Nov 01, 2017 127(11):4090-4103
Academic Journal
Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin-Robinet, C.; Gautier, E.; Chehadeh, S. E.; Mosca-Boidron, A.-L.; Thevenon, J.; Edery, P.; Alex-Cordier, M.-P.; Till, M.; Lyonnet, S.; Cormier-Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot-Bastaraud, S.; Bitoun, P.; Heron, B.; Piparas, E.; Morice-Picard, F.; Moutton, S.; Chassaing, N.; Vigouroux-Castera, A.; Lespinasse, J.; Manouvrier-Hanu, S.; Boute-Benejean, O.; Vincent-Delorme, C.; Petit, F.; Meur, N. L.; Marti-Dramard, M.; Guerrot, A.-M.; Goldenberg, A.; Redon, S.; Ferrec, C.; Odent, S.; Caignec, C. L.; Mercier, S.; Gilbert-Dussardier, B.; Toutain, A.; Arpin, S.; Blesson, S.; Mortemousque, I.; Schaefer, E.; Martin, D.; Philip, N.; Sigaudy, S.; Busa, T.; Missirian, C.; Giuliano, F.; Benailly, H. K.; Kien, P. K.V.; Leheup, B.; Benneteau, C.; Lambert, L.; Caumes, R.; Kuentz, P.; François, I.; Heron, D.; Keren, B.; Cretin, E.; Callier, P.; Julia, S.; Faivre, L.
Clinical Genetics. May 01, 2016 89(5):630-635
Academic Journal
El Chehadeh, Salima; Touraine, R.; Prieur, F.; Reardon, W.; Bienvenu, T.; Chantot-Bastaraud, S.; Doco-Fenzy, M.; Landais, E.; Philippe, C.; Marle, Nathalie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Mugneret, Francine; Le Meur, N.; Goldenberg, A.; Guerrot, A.-M.; Chambon, P.; Satre, V.; Coutton, C.; Jouk, P.-S.; Devillard, F.; Dieterich, K.; Afenjar, A.; Burglen, L.; Moutard, M.-L.; Addor, M.-C.; Lebon, S.; Martinet, D.; Alessandri, J.-L.; Doray, B.; Miguet, M.; Devys, D.; Saugier-Veber, P.; Drunat, S.; Aral, Bernard; Kremer, V.; Rondeau, S.; Tabet, A.-C.; Thevenon, Julien; Thauvin-Robinet, Christel; Perreton, N.; Des Portes, V.; Faivre, Laurence
Clinical Genetics. 91:576-588
Academic Journal
Lehalle, D.; Mosca-Boidron, A.L.; Begtrup, A.; Boute-Benejean, O.; Charles, P.; Cho, M.T.; Clarkson, A.; Devinsky, O.; Duffourd, Y.; Duplomb-Jego, L.; Gerard, B.; Jacquette, A.; Kuentz, P.; Masurel-Paulet, A.; McDougall, C.; Moutton, S.; Olivie, H.; Park, S.M.; Rauch, A.; Revencu, N.; Riviere, J.B.; Rubin, K.; Simonic, I.; Shears, D.J.; Smol, T.; Tavares, A.L.T.; Terhal, P.; Thevenon, J.; van Gassen, K.; Vincent-Delorme, C.; Willemsen, M.H.; Wilson, G.N.; Zackai, E.; Zweier, C.; Callier, P.; Thauvin-Robinet, C.; Faivre, L.
Journal of Medical Genetics, 54, 7, pp. 479-488
Conference
Vitobello, A.; Mau-Them, F. Tran; Bruel, A. L.; Duffourd, Y.; Tisserant, E.; Callier, P.; Moutton, S.; Nambot, S.; Lehalle, D.; Jean-Marcais, N.; Delanne, J.; Racine, C.; Thevenon, J.; Poe, C.; Jouan, T.; Chevarin, M.; Willems, M.; Coubes, C.; Genevieve, D.; Houcinat, N.; Masurel-Paulet, Alice; Mosca-Boidron, A.-L.; Sorlin, A.; Isidor, B.; Heide, S.; Afenjar, A.; Rodriguez, D.; Mignot, C.; Heron, D.; Vincent, M.; Charles, P.; Odent, S.; Dubourg, C.; Faudet, A.; Keren, B.; Cogne, B.; Boland, A.; Olaso, R.; Philippe, C.; Deleuze, J. F.; Faivre, L.; Thauvin-Robinet, C.
Academic Journal
C. Thauvin Robinet; P. Callier; FRANCO, BRUNELLA; O. Zuffardi; M. Payet; B. Aral; N. Gigot; A. Donzel; A. L. Mosca Boidron; A. Masurel Paulet; F. Huet; J. R. Teyssier; F. Mugneret; L. Faivre
American Journal of Medical Genetics Part A. :1846-1849
Academic Journal
Mercati; Huguet; Danckaert; Andre-Leroux; Maruani; Bellinzoni; Rolland; Gouder; Mathieu; Buratti; Amsellem; Benabou; Van-Gils; Beggiato; Konyukh; Bourgeois; J-P; Gazzellone; M. J.; Yuen; R. K. C.; Walker; Delepine; Boland; Regnault; Francois; Van den Abbeele; Mosca-Boidron; A. L.; Faivre; Shimoda; Watanabe; Bonneau; Rastam; Leboyer; Scherer; S. W.; Gillberg; Delorme; Cloez-Tayarani; Bourgeron
Mol Psychiatry
MOLECULAR PSYCHIATRY
MOLECULAR PSYCHIATRY
Academic Journal
A L, Mosca-Boidron; S, Bouquillon; L, Faivre; P, Callier; J, Andrieux; N, Marle; C, Bonnet; C, Vincent-Delorme; M, Berri; G, Plessis; S, Manouvrier-Hanu; A, Dieux-Coeslier; C, Thauvin-Robinet; E, Pipiras; A, Delahaye; M, Payet; C, Ragon; A, Masurel-Paulet; E, Questiaux; B, Benzacken; P, Jonveaux; F, Mugneret; M, Holder-Espinasse
Clinical Genetics. 82:41-47
Academic Journal
Mosca-Boidron, A L; Bouquillon, S; Faivre, L; Callier, P; Andrieux, J; Marle, N; Bonnet, C; Vincent-Delorme, C; Berri, M; Plessis, G; Manouvrier-Hanu, S; Dieux-Coeslier, A; Thauvin-Robinet, C; Pipiras, E; Delahaye, A; Payet, M; Ragon, C; Masurel-Paulet, A; Questiaux, E; Benzacken, B; Jonveaux, P; Mugneret, F; Holder-Espinasse, M
Clinical Genetics. Jul 01, 2012 82(1):41-47
Academic Journal
Callier, P.; Aral, B.; Hanna, N.; Lambert, S.; Dindy, H.; Ragon, C.; Payet, M.; Collod-Béroud, Gwenaëlle; Carmignac, V.; Delrue, M. A.; Goizet, C.; Philip, Nicole; Busa, Tiffany; Dulac, Y.; Missotte, I.; Sznajer, Y.; Toutain, A.; Francannet, C.; Mégarbané, André; Julia, S.; Edouard, T.; Sarda, P.; Amiel, J.; Lyonnet, S.; Cormier-Daire, V.; Gilbert, B.; Jacquette, A.; Heron, D.; Collignon, P.; Lacombe, D.; Morice-Picard, F.; Jouk, P. S.; Cusin, V.; Willems, M.; Sarrazin, E.; Amarof, K.; Coubes, C.; Addor, M. C.; Journel, H.; Colin, E.; Khau van Kien, P.; Baumann, C.; Leheup, B.; Martin-Coignard, D.; Doco-Fenzy, M.; Goldenberg, A.; Plessis, G.; Thevenon, J.; Pasquier, L.; Odent, S.; Vabres, P.; Huet, F.; Marle, N.; Mosca-Boidron, A. L.; Mugneret, F.; Gauthier, S.; Binquet, C.; Thauvin-Robinet, C.; Jondeau, G.; Boileau, C.; Faivre, L.
Clinical Genetics. 84:507-521
Book
S, El Chehadeh; C, Bonnet; P, Callier; M, Béri; T, Dupré; M, Payet; C, Ragon; A L, Mosca-Boidron; N, Marle; F, Mugneret; A, Masurel-Paulet; J, Thevenon; N, Seta; L, Duplomb; P, Jonveaux; L, Faivre; C, Thauvin-Robinet
JIMD Reports ISBN: 9783662466995
Academic Journal
Smolen, C.; Jensen, M.; Pizzo, L.; Tyryshkina, A.; Banerjee, D.; Rohan, L.; Huber, E.; Girirajan, S.; Dyer, L.; Juusola, J.; El Khattabi, L.; Prontera, P.; Caberg, J.-H.; Van Dijck, A.; Kooy, R.F.; Schwartz, C.; Faivre, L.; Callier, P.; Lefebvre, M.; Mosca-Boidron, A.-L.; Pope, K.; Snell, P.; Lockhart, P.J.; Amor, D.J.; Castiglia, L.; Galesi, O.; Avola, E.; Fichera, M.; Bruccheri, M.G.; Mattina, T.; Romano, C.; Luana Mandarà, G.M.; Pichon, O.; Cuinat, S.; Mercier, S.; Bénéteau, C.; Isidor, B.; Le Caignec, C.; Stoeva, R.; Blesson, S.; Martin-Coignard, D.; Nordsletten, A.; Sistermans, E.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 December 2023, 110(12):2015-2028)
Academic Journal
Tisserant, E.; Vitobello, A.; Bruel, A.-L.; Sorlin, A.; Nambot, S.; Moutton, S.; Racine, C.; Garde, A.; Delanne, J.; Tran-Mau-Them, F.; Philippe, C.; Kuentz, P.; Poe, C.; Thauvin-Robinet, C.; Faivre, L.; Mosca-Boidron, A.-L.; Thevenon, J.; Duffourd, Y.; Callier, P.; Callegarin, D.; Verdez, S.; Viora-Dupont, E.; Konyukh, M.; Marle, N.; Poulleau, M.; Payet, M.; Aho Glele, L.S.
In: Annals of Human Genetics . (Annals of Human Genetics, July 2022, 86(4):171-180)
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