부산대학교 도서관

Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido

Kassabian , B , Levy , A M , Gardella , E , Aledo-Serrano , A , Ananth , A L , Brea-Fernández , A J , Caumes , R , Chatron , N , Dainelli , A , De Wachter , M , Denommé-Pichon , A-S , Dye , T J , Fazzi , E , Felt , R , Fernández-Jaén , A , Fernández-Prieto , M , Gantz , E , Gasperowicz , P , Gil-Nagel , A , Gómez-Andrés , D , Greiner , H M , Guerrini , R , Haanpää , M K , Helin , M , Hoyer , J , Hurst , A C E , Kallish , S , Karkare , S N , Khan , A , Kleinendorst , L , Koch , J , Kothare , S V , Koudijs , S M , Lagae , L , Lakeman , P , Leppig , K A , Lesca , G , Lopergolo , D , Lusk , L , Mackenzie , A , Mei , D , Møller , R S , Pereira , E M , Platzer , K , Quelin , C , Revah-Politi , A , Rheims , S , Rodríguez-Palmero , A , Rossi , A , Santorelli , F , Seinfeld , S , Sell , E , Stephenson , D , Szczaluba , K , Trinka , E , Umair , M , Van Esch , H , van Haelst , M M , Veenma , D C M , Weber , S , Weckhuysen , S , Zacher , P , Tümer , Z & Rubboli , G 2024 , ' Developmental epileptic encephalopathy in DLG4 -related synaptopathy ' , Epilepsia , vol. 65 , no. 4 , pp. 1029-1045 .

Mary, L.; Fradin, M.; Pasquier, L.; Quelin, C.; Loget, P.; Le Lous, M.; Le Bouar, G.; Nivot-Adamiak, S.; Lokchine, A.; Dubourg, C.; Jauffret, V.; Nouyou, B.; Henry, C.; Launay, E.; Odent, S.; Jaillard, S.; Belaud-Rotureau, M.A.

In European Journal of Medical Genetics June 2023 66(6)

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G.M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C.E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Mau-Them, Frederic Tran; Garcia Moya, Luis Fernandez; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B.A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr , M H , Lemire , G , Boycott , K M , Towne , M , Li , M , Tarnopolsky , M , Brady , L , Parker , M J , Faghfoury , H , Parsley , L K , Agolini , E , Dentici , M L , Novelli , A , Wright , M , Palmquist , R , Lai , K , Scala , M , Striano , P , Iacomino , M , Zara , F , Cooper , A , Maarup , T J , Byler , M , Lebel , R R , Balci , T B , Louie , R , Lyons , M , Douglas , J , Nowak , C , Afenjar , A , Hoyer , J , Keren , B , Maas , S M , Motazacker , M M , Martinez-Agosto , J A , Rabani , A M , McCormick , E M , Falk , M J , Ruggiero , S M , Helbig , I , Møller , R S , Tessarollo , L , Ardori , F T , Palko , M E , Hsieh , T C , Krawitz , P M , Ganapathi , M , Gelb , B D , Jobanputra , V , Wilson , A , Greally , J , Jacquemont , S , Jizi , K , Bruel , A L , Quelin , C , Misra , V K , Chick , E , Romano , C , Greco , D , Arena , A , Morleo , M , Nigro , V , Seyama , R , Uchiyama , Y , Matsumoto , N , Taira , R , Tashiro , K , Sakai , Y , Yigit , G , Wollnik , B , Wagner , M , Kutsche , B , Hurst , A C E , Thompson , M L , Schmidt , R , Randolph , L , Spillmann , R C , Shashi , V , Higginbotham , E J , Cordeiro , D , Carnevale , A , Costain , G , Khan , T , Funalot , B , Mau-Them , F T , Garcia Moya , L F , García-Miñaúr , S , Osmond , M , Chad , L , Quercia , N , Carrasco , D , Li , C , Sanchez-Valle , A , Kelley , M , Nizon , M , Jensson , B O , Sulem , P , Stefansson , K , Gorokhova , S , Busa , T , Rio , M , Habdallah , H H , Lesieur-Sebellin , M , Amiel , J , Pingault , V , Mercier , S , Vincent , M , Philippe , C , Fatus-Fauconnier , C , Friend , K , Halligan , R K , Biswas , S , Rosser , J , Shoubridge , C , Corbett , M , Barnett , C , Gecz , J , Leppi

Le Duc, D; Giulivi, C; Hiatt, SM; Napoli, E; Panoutsopoulos, A; De Crescenzo, AH; Kotzaeridou, U; Syrbe, S; Anagnostou, E; Azage, M; Bend, R; Begtrup, A; Brown, NJ; Büttner, B; Cho, MT; Cooper, GM; Doering, JH; Dubourg, C; Everman, DB; Hildebrand, MS; Santos, FJR; Kellam, B; Keller-Ramey, J; Lemke, JR; Liu, S; Niyazov, D; Payne, K; Person, R; Quélin, C; Schnur, RE; Smith, BT; Strober, J; Walker, S; Wallis, M; Walsh, L; Yang, S; Yuen, RKC; Ziegler, A; Sticht, H; Pride, MC; Orosco, L; Martínez-Cerdenõ, V; Silverman, JL; Crawley, JN; Scherer, SW; Zarbalis, KS; Jamra, R

Brain : a journal of neurology. 142(11)

Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Buttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christele; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quelin, Chloe; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martinez-Cerdeno, Veronica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami

Mouillé, M.; Rio, M.; Breton, S.; Piketty, M. L.; Afenjar, A.; Amiel, J.; Capri, Y.; Goldenberg, A.; Francannet, C.; Michot, C.; Mignot, C.; Perrin, L.; Quelin, C.; Van Gils, J.; Barcia, G.; Pingault, V.; Maruani, G.; Koumakis, E.; Cormier-Daire, V.

Orphanet Journal of Rare Diseases. 17(1)

M. Mouillé; M. Rio; S. Breton; M. L. Piketty; A. Afenjar; J. Amiel; Y. Capri; A. Goldenberg; C. Francannet; C. Michot; C. Mignot; L. Perrin; C. Quelin; J. Van Gils; G. Barcia; V. Pingault; G. Maruani; E. Koumakis; V. Cormier-Daire

Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)

Soilly, AL; Robert-Viard, C; Besse, C; Bruel, AL; Gerard, B; Boland, A; Piton, A; Duffourd, Y; Muller, J; Poë, C; Jouan, T; El Doueiri, S; Faivre, L; Bacq-Daian, D; Isidor, B; Genevieve, D; Odent, S; Philip, N; Doco-Fenzy, M; Lacombe, D; Asensio, ML; Deleuze, JF; Binquet, C; Arpin, S; Blanchet, P; Blesson, S; Boute-Benejean, O; Busa, T; Colin, E; Coubes, C; Devillard, F; Edery, P; El Chehadeh, S; Fradin, M; Goldenberg, A; Guerrot, A-M; Herenger, Y; Houcinat, N; Jean-Marcais, N; Jouk, P. S.; Lambert, L; Lavillaureix, A; Legendre, M; Leheup, B; Manouvrier, S; Mercier, S; Moutton, S; Nizon, M; Pasquier, L; Petit, F; Pinson, L; Poirsier, C; Pons, L; Putoux, A; Quelin, C; Renaud, M; Rossi, M; Sorlin, A; Spodenkiewicz, M; Thevenon, J; Toutain, A; Van-Gils, J; Vanlerberghe, C; Verloes, A; Vincent, M; Vincent-Delorme, C; Willems, M; Ziegler, A

BMC Health Services Research. April 21, 2023, Vol. 23 Issue 1

Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami

Brain. 142(9)

Jury J; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; Benoist JF; Laboratoire de Biochimie Métabolique, Hôpital Necker-Enfants-Malades, APHP, Paris, France.; CEA, INRAE, DMTS, SPI, MetaboHUB-IDF, Université Paris-Saclay, Gif-sur-Yvette, France.; Joubert M; Unité de Fœtopathologie et Génétique, CHU de Nantes, Nantes, France.; Quelin C; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Besnard T; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Conrad S; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; Le Vaillant C; Service de Gynécologie et Obstétrique, CHU Nantes, Nantes, France.; Bézieau S; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Isidor B; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Attié-Bitach T; Imagine Institute, INSERM UMR1163, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine, Université de Paris Cité, Paris, France.; Laboratoire SeqOIA (PFMG 2025), Paris, France.; Cogné B; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.; Laboratoire SeqOIA (PFMG 2025), Paris, France.; Vincent M; Service de Génétique médicale, Nantes Université, CHU de Nantes, Nantes, France.; l'institut du thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE