부산대학교 도서관

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian, 1964; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D.; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G.

Nature Communications. 17(1)

Claudia M. Bonardi; Rikke S. Møller; Nuria Ruiz-Reig; Guoliang Chai; Camilla G. Madsen; Allan Bayat; Trine B. Hammer; Christina D. Fenger; Elena Gardella; Pawel Gawlinski; Mateusz Dawidziuk; Wojciech Wiszniewski; Monika Bekiesinska-Figatowska; Sara Cabet; Massimiliano Rossi; Gaetan Lesca; Evan Gouy; Birgit Jepsen; Tomasz S. Mieszczanek; Rossana Sanchez Russo; Eileen E. Barr; Katrin Õunap; Pilvi Ilves; Monica H. Wojcik; Mohamed Aittaleb; Klaus Brusgaard; Fadel Tissir; Guido Rubboli

Nature Communications, Vol 17, Iss 1, Pp 1-18 (2026)

Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Dühring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M.

Orphanet Journal of Rare Diseases. 20(1)

Jens Otto Lunde Jørgensen; Ulla Feldt-Rasmussen; Dorte Glintborg; Victor Brun Boesen; Stina Willemoes Borresen; Marianne Skovsager Andersen; Anja Fenger Dreyer; Simon Bøggild Hansen; Hajir Al-Jorani; Lise Sofie Bislev; Louise Lehmann Christensen; Richard Christian Jensen; Nanna Thurmann Jørgensen; Marianne Christina Klose; Marie Louise Lund; Jelena Skaaning S Frederiksen; Randi Tei

BMJ Open, Vol 16, Iss 2 (2026)

Ferretti, Alessandro, MD; Furlan, Margherita, MD; Glinton, Kevin E., MD, PhD; Fenger, Christina D., MSc, PhD; Boschann, Felix, MD; Zeidler, Shimriet, MD, PhD; Stoltenburg, Corinna, MD; Barakat, Tahsin Stefan, MD, PhD; Martinez-Agosto, Julian A., MD, PhD; Devinsky, Orrin, MD; Furia, Francesca, MD, PhD; Rubboli, Guido, MD; Di Napoli, Anteo, MD, MSc; Bellone, Giulia, MD; Furio, Silvia, MD; Piccirillo, Marisa, MD; Mennini, Maurizio, MD, PhD; Di Nardo, Giovanni, MD, PhD; Parisi, Pasquale, MD, PhD; Møller, Rikke S., MSc, PhD; Yang, Yaping, PhD; Stankiewicz, Pawel, MD, PhD; Gardella, Elena, MD, PhD

Pediatric Neurology. 170:58-65

Rossi, Alessandra; Lin, Susan X.N.; Absalom, Nathan L.; de la Rosa, Sebastian; Liao, Vivian W.Y.; Mohammadi, Nazanin A.; Viswanathan, Sindhu; Stoedberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rueegger, Andrea; Giraldez, Beatriz G.; Isidor, Bertrand; Stueve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D.; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stephanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F.; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M.; Johannesen, Katrine M.; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Melanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Gardella, Elena; Moller, Rikke S.; Rubboli, Guido; Ahring, Philip K.

Neurology
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Kovermann, Peter ; Bayat, Allan ; Fenger, Christina D. ; Leeuwen, Lisette ; Borovikov, Artem ; Sharkov, Artem ; Levrat, Virginie ; Lesca, Gaetan ; Perrin, Laurence ; Levy, Jonathan ; Fahlke, Christoph ; Møller, Rikke S. ; Jensen, Anders A.

In eBioMedicine April 2025 114

Ferretti, Alessandro, MD; Furlan, Margherita, MD; Glinton, Kevin E., MD, PhD; Fenger, Christina D., MSc, PhD; Boschann, Felix, MD; Amlie-Wolf, Louise, MSc; Zeidler, Shimriet, MD, PhD; Moretti, Raffaella, MD; Stoltenburg, Corinna, MD; Tarquinio, Daniel C., MSc, DO; Furia, Francesca, MD; Parisi, Pasquale, MD, PhD; Rubboli, Guido, MD; Devinsky, Orrin, MD; Mignot, Cyril, MD, PhD; Gripp, Karen W., MD; Møller, Rikke S., MSc, PhD; Yang, Yaping, PhD; Stankiewicz, Pawel, MD, PhD; Gardella, Elena, MD, PhD

Pediatric Neurology. 158:17-25

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
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Mejdahl Nielsen, Malene ; Petersen, Esben Thade ; Fenger, Christina Dühring ; Ørngreen, Mette Cathrine ; Siebner, Hartwig Roman ; Boer, Vincent Oltman ; Považan, Michal ; Lund, Allan ; Grønborg, Sabine Weller ; Hammer, Trine Bjørg

In Molecular Genetics and Metabolism November 2023 140(3)

Aledo-Serrano, Ángel; Valls-Carbó, Adrián; Fenger, Christina D.; Groeppel, Gudrun; Hartlieb, Till; Pascual, Irene; Herraez, Erika; Cabal, Borja; García-Morales, Irene; Toledano, Rafael; Budke, Marcelo; Beltran-Corbellini, Álvaro; Baldassari, Sara; Coras, Roland; Kobow, Katja; Herrera, David M.; del Barrio, Antonio; Dahl, Hans Atli; del Pino, Isabel; Baulac, Stéphanie; Blumcke, Ingmar; Møller, Rikke S.; Gil-Nagel, Antonio

Neurotherapeutics. 20(5):1294-1304

Bayat, Allan ; Liu, Zhenjiang ; Luo, Sheng ; Fenger, Christina D. ; Højte, Anne F. ; Isidor, Bertrand ; Cogne, Benjamin ; Larson, Austin ; Zanus, Caterina ; Faletra, Flavio ; Keren, Boris ; Musante, Luciana ; Gourfinkel-An, Isabelle ; Perrine, Charles ; Demily, Caroline ; Lesca, Gaeton ; Liao, Weiping ; Ren, Dejian

In Genetics in Medicine September 2023 25(9)

Neri, Sabrina ; Maia, Nuno ; Fortuna, Ana M. ; Damasio, Joana ; Coale, Elizabeth ; Willis, Mary ; Jorge, Paula ; Højte, Anne F. ; Fenger, Christina D. ; Møller, Rikke S. ; Bayat, Allan

In European Journal of Medical Genetics November 2022 65(11)

Bonardi, Claudia; Heyne, Henrike; Fiannacca, Martina; Fitzgerald, Mark; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaétan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; Portes, Vincent Des; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Geneviève; Ville, Dorothée; Hirsch, Edouard; Maurey, Hélène; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David; Kroes, Hester; Reale, Chiara; Fenger, Christina; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David; Møller, Rikke; Rubboli, Guido

Brain, 144, pp. 3635-3650
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219

Bayat, Allan ; Fenger, Christina D. ; Techlo, Tanya R. ; Højte, Anne F. ; Nørgaard, Ida ; Hansen, Thomas F. ; Rubboli, Guido ; Møller, Rikke S.

In Neurotherapeutics July 2022 19(4):1353-1367

Bak, Sara Thornby; Harvald, Eva Bang; Ellman, Ditte Gry; Mathiesen, Sabrina Bech; Chen, Ting; Fang, Shu; Andersen, Kristian Skriver; Fenger, Christina Dühring; Burton, Mark; Thomassen, Mads; Andersen, Ditte Caroline

Basic Research in Cardiology. 118(1)

Gjerulfsen, Cathrine E. ; Møller, Rikke S. ; Fenger, Christina D. ; Hammer, Trine B. ; Bayat, Allan

In European Journal of Medical Genetics July 2021 64(7)

Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli

Frontiers in Neuroscience, Vol 17 (2023)

Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli

Frontiers in Neuroscience, Vol 17 (2023)

Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F; Berkovic, Samuel F; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle Nathalie; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E

Genetics in Medicine, 23, 2, pp. 363-373
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, 'NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373. https://doi.org/10.1038/s41436-020-00988-9