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)

Durizot, Meghane ; Burglen, Lydie ; Garel, Catherine ; Blondiaux, Eléonore ; Riquet, Audrey ; Floret, Valentine ; Desportes, Vincent ; Häänpaa, Maria ; Valenzuela, Maria Irene ; Pinto, Anna Maria ; Renieri, Alessandra ; Vanneste, Michiel ; Devriendt, Koen ; de Waele, Liesbeth ; Guilbaud, Lucie ; Jouannic, Jean-Marie ; Harion, Madeleine ; Billette de Villemeur, Thierry ; Rodriguez, Diana ; Lacaze, Emmanuelle ; Milh, Mathieu ; Cloarec, Robin ; Afenjar, Alexandra ; Héron, Delphine ; Mignot, Cyril ; Valence, Stéphanie

In Pediatric Neurology September 2025 170:49-57

Nazario, Adelie Navas; Connolly, Anne M.; Tesi-Rocha, Carolina; Rady, Chamindra Laverty; Zaidman, Craig; Proud, Crystal; Phan, Han; Statland, Jeffrey M.; Kwon, Jennifer; Nance, Jessica; Parsons, Julie; Mathews, Katherine; Ramos-Platt, Leigh Marie; Cartwright, Michael; Richardson, Randal; Fryer, Robert; Yum, Sabrina; Bernes, Saunder; Perlman, Seth Javier; Bruno, Claudio; Masson, Riccardo; Messina, Sonia; Blaschek, Astrid; Holzwarth, Dorothea; Steinborn, Barbara; Kotulska-Jozwiak, Katarzyna; Mazurkiewicz-Beldzinska, Maria; Daron, Aurore; Deconinck, Nicolas; Davion, Jean-Baptiste B.; Childs, Anne-Marie; Baranello, Giovanni; Nascimento Osorio, Andres; Castellano, Inmaculada Pitarch; Crawford, Thomas O ; Servais, Laurent ; Mercuri, Eugenio ; Kölbel, Heike ; Kuntz, Nancy ; Finkel, Richard S ; Krueger, Jena ; Batley, Kaitlin ; Young, Sally Dunaway ; Marantz, Jing L ; Song, Guochen ; Yao, Bert ; Zhao, Guolin ; Rossello, Jose ; Tirucherai, Giridhar S ; Mazzone, Elena Stacy ; Butterfield, Russell J ; de la Banda, Marta Gomez Garcia ; Seferian, Andreea M ; Sansone, Valeria A ; De Waele, Liesbeth ; van der Pol, W Ludo ; Cances, Claude ; Pechmann, Astrid ; Darras, Basil T

In The Lancet Neurology September 2025 24(9):727-739

Acsadi, Gyula; Baranello, Giovanni; Blaschek, Astrid; Brandsema, John; Brogna, Claudia; Bruno, Claudio; Connolly, Anne; de Groot, Imelda; De Waele, Liesbeth; Finanger, Erika; Finkel, Richard; Gidaro, Teresa; Guglieri, Michaela; Harper, Amy; Lopez Lobato, Mercedes; Madruga Garrido, Marcos; Magri, Francesca; Manousakis, Georgios; Masson, Riccardo; Monduy, Migvis; Muelas Gomez, Nuria; Munell, Francina; Nascimento, Andres; Nevo, Yoram; Pereon, Yann; Phan, Han; Sansone, Valeria; Scoto, Mariacristina; Vucinic, Dragana; Willis, Tracey; Mercuri, Eugenio ; Vilchez, Juan J ; Boespflug-Tanguy, Odile ; Zaidman, Craig M ; Mah, Jean K ; Goemans, Nathalie ; Müller-Felber, Wolfgang ; Niks, Erik H ; Schara-Schmidt, Ulrike ; Bertini, Enrico ; Comi, Giacomo P ; Mathews, Katherine D ; Servais, Laurent ; Vandenborne, Krista ; Johannsen, Jessika ; Messina, Sonia ; Spinty, Stefan ; McAdam, Laura ; Selby, Kathryn ; Byrne, Barry ; Laverty, Chamindra G ; Carroll, Kevin ; Zardi, Giulia ; Cazzaniga, Sara ; Coceani, Nicoletta ; Bettica, Paolo ; McDonald, Craig M

In The Lancet Neurology April 2024 23(4):393-403

Smeets, Nathalie ; Gheldof, Alexander ; Dequeker, Bart ; Poleur, Margaux ; Maldonado Slootjes, Sofia ; Van Parijs, Vinciane ; Deconinck, Nicolas ; Dontaine, Pauline ; Alonso-Jimenez, Alicia ; De Bleecker, Jan ; De Ridder, Willem ; Herdewyn, Sarah ; Paquay, Stéphanie ; Vanlander, Arnaud ; De Waele, Liesbeth ; Peirens, Geertrui ; Beysen, Diane ; Claeys, Kristl G. ; Dubuisson, Nicolas ; Hansen, Isabelle ; Remiche, Gauthier ; Seneca, Sara ; Bissay, Véronique ; Régal, Luc

In Pediatric Neurology September 2024 158:57-65

Heunis, Tosca-Marie ; Chambers, Nola ; Vanclooster, Stephanie ; Bissell, Stacey ; Byars, Anna W. ; Capal, Jamie K. ; Cukier, Sebastián ; Davis, Peter E. ; de Vries, Magdalena C. ; De Waele, Liesbeth ; Flinn, Jennifer ; Gardner-Lubbe, Sugnet ; Gipson, Tanjala ; Kingswood, J. Christopher ; Krueger, Darcy A. ; Kumm, Aubrey J. ; Sahin, Mustafa ; Schoeters, Eva ; Smith, Catherine ; Srivastava, Shoba ; Takei, Megumi ; van Eeghen, Agnies M. ; Waltereit, Robert ; Jansen, Anna C. ; de Vries, Petrus J.

In Pediatric Neurology October 2023 147:101-123

Kirschner, Janbernd ; Bernert, Günther ; Butoianu, Nina ; De Waele, Liesbeth ; Fattal-Valevski, Aviva ; Haberlova, Jana ; Moreno, Teresa ; Klein, Andrea ; Kostera-Pruszczyk, Anna ; Mercuri, Eugenio ; Quijano-Roy, Susana ; Sejersen, Thomas ; Tizzano, Eduardo F. ; van der Pol, W Ludo ; Wallace, Sean ; Zafeiriou, Dimitrios ; Ziegler, Andreas ; Muntoni, Francesco ; Servais, Laurent

In European Journal of Paediatric Neurology July 2024 51:73-78

Johannesen, Katrine M. ; Iqbal, Sumaiya ; Guazzi, Milena ; Mohammadi, Nazanin A. ; Pérez-Palma, Eduardo ; Schaefer, Elise ; De Saint Martin, Anne ; Abiwarde, Marie Therese ; McTague, Amy ; Pons, Roser ; Piton, Amelie ; Kurian, Manju A. ; Ambegaonkar, Gautam ; Firth, Helen ; Sanchis-Juan, Alba ; Deprez, Marie ; Jansen, Katrien ; De Waele, Liesbeth ; Briltra, Eva H. ; Verbeek, Nienke E. ; van Kempen, Marjan ; Fazeli, Walid ; Striano, Pasquale ; Zara, Federico ; Visser, Gerhard ; Braakman, Hilde M.H. ; Haeusler, Martin ; Elbracht, Miriam ; Vaher, Ulvi ; Smol, Thomas ; Lemke, Johannes R. ; Platzer, Konrad ; Kennedy, Joanna ; Klein, Karl Martin ; Au, Ping Yee Billie ; Smyth, Kimberly ; Kaplan, Julie ; Thomas, Morgan ; Dewenter, Malin K. ; Dinopoulos, Argirios ; Campbell, Arthur J. ; Lal, Dennis ; Lederer, Damien ; Liao, Vivian W.Y. ; Ahring, Philip K. ; Møller, Rikke S. ; Gardella, Elena

In Genetics in Medicine March 2022 24(3):681-693

Servais, Laurent ; Straathof, Chiara S.M. ; Schara, Ulrike ; Klein, Andrea ; Leinonen, Mika ; Hasham, Shabir ; Meier, Thomas ; De Waele, Liesbeth ; Gordish-Dressman, Heather ; McDonald, Craig M. ; Mayer, Oscar H. ; Voit, Thomas ; Mercuri, Eugenio ; Buyse, Gunnar M.

In Neuromuscular Disorders January 2020 30(1):5-16

Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I; D Arrigo, Stefano

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, 'Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, G I & D Arrigo, S 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.', American Journal of Medical Genetics. Part A, vol. 167A, no. 2. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics-Part A, vol. 167A, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
American Journal of Medical Genetics, Part A

Kwon, Jennifer ; Munell, Francina ; Le Goff, Laure ; Yuge, Kotaro ; Kato, Tamaki ; Cances, Claude ; De Waele, Liesbeth ; Woodcock, Ian ; Mercuri, Eugenio ; Proud, Crystal ; Darras, Basil ; Hayes, Leslie ; Oskoui, Maryam ; Visootsak, Jeannie ; Williams, Gemma ; Lee, Anna ; Ilić, Andreja ; Yang, Lina ; Van Der Pol, W. Ludo

In Journal of the Neurological Sciences December 2025 480 Supplement

Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P.; Rodero, Mathieu P.; El-Daher, Marie-Thérèse; Rice, Gillian I.; Dhir, Somdutta; Wheeler, Ann P.; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L.; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M. H.; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H.; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A.; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Jr., Hélio; Van Esch, Hilde; Vermelle, Marie; Webb, Kate; Jackson, Andrew P.; Reijns, Martin A. M.; Gilbert, Nick; Crow, Yanick J.

Nature Genetics. 52(12):1364-1372

Kwon, Jennifer M.; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R.; Mercuri, Eugenio M.; Proud, Crystal M.; Darras, Basil T.; Hayes, Leslie H.; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W. Ludo

Nature Medicine. 32(2):488-493

Kwon, Jennifer M.; Munell, Francina; Le Goff, Laure; Yuge, Kotaro; Kato, Tamaki; Cances, Claude; De Waele, Liesbeth; Woodcock, Ian R.; Mercuri, Eugenio M.; Proud, Crystal M.; Darras, Basil T.; Hayes, Leslie H.; Oskoui, Maryam; Visootsak, Jeannie; Williams, Gemma; Ilić, Andreja; Yang, Lina; van der Pol, W. Ludo

Nature Medicine. 32(2):763-763

Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; d'Amato, Lisa; d'Augeres, Guillaume Beaure; Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatzonis, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; de Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne de Saint; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothée; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet, Bertrand; Falco Rojas, Maria Luz Ruiz; Campistol Planas, Jaume; Martinez Bermejo, Antonio; Smeyers Dura, Patricia; Roldan Aparicio, Susana; Martinez Gonzalez, Maria Jesus; Lopez Pison, Javier; Blanco Barca, Manuel Oscar; Lopez Laso, Eduardo; Alonso Luengo, Olga; Aguirre Rodriguez, Francisco Javier; Malaga Dieguez, Ignacio; Camacho Salas, Ana; Marti Carrera, Itxaso; Martinez Salcedo, Eduardo; Yoldi Petri, Maria Eugenia; Cancho Candela, Ramon; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; Silva Oliveira Monteiro, Jose Paulo; Oliveira Ferreira Leao, Miguel Jorge Santos; Marceano Ribeiro Luis, Catarina Sofia; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberlandt, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Dahlin, Maria; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina

Front Neurol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neurology, Vol 10 (2019)
FRONTIERS IN NEUROLOGY

Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C. Kingswood; Anna C. Jansen; Nobuo Shinohara; Shigeo Horie; Masaya Kubota; Jun Tohyama; Katsumi Imai; Mari Kaneda; Hideo Kaneko; Yasushi Uchida; Tomoko Kirino; Shoichi Endo; Yoshikazu Inoue; Katsuhisa Uruno; Ayse Serdaroglu; Zuhal Yapici; Banu Anlar; Sakir Altunbasak; Olga Lvova; Oleg Valeryevich Belyaev; Oleg Agranovich; Elena Vladislavovna Levitina; Yulia Vladimirovna Maksimova; Antonina Karas; Yuwu Jiang; Liping Zou; Kaifeng Xu; Yushi Zhang; Guoming Luan; Yuqin Zhang; Yi Wang; Meiling Jin; Dingwei Ye; Weiping Liao; Liemin Zhou; Jie Liu; Jianxiang Liao; Bo Yan; Yanchun Deng; Li Jiang; Zhisheng Liu; Shaoping Huang; Hua Li; Kijoong Kim; Pei-Lung Chen; Hsiu-Fen Lee; Jeng-Dau Tsai; Ching-Shiang Chi; Chao-Ching Huang; Kate Riney; Deborah Yates; Patrick Kwan; Surachai Likasitwattanakul; Charcrin Nabangchang; Lunliya Thampratankul Krisnachai Chomtho; Kamornwan Katanyuwong; Somjit Sriudomkajorn; Jo Wilmshurst; Reeval Segel; Tal Gilboa; Michal Tzadok; Aviva Fattal-Valevski; Panagiotis Papathanasopoulos; Antigone Syrigou Papavasiliou; Stylianos Giannakodimos; Stylianos Gatzonis; Evangelos Pavlou; Meropi Tzoufi; A. M. H. Vergeer; Marc Dhooghe; Hélène Verhelst; Filip Roelens; Marie Cecile Nassogne; Pierre Defresne; Liesbeth De Waele; Patricia Leroy; Nathalie Demonceau; Benjamin Legros; Patrick Van Bogaert; Berten Ceulemans; Lina Dom; Pierre Castelnau; Anne De Saint Martin; Audrey Riquet; Mathieu Milh; Claude Cances; Jean-Michel Pedespan; Dorothee Ville; Agathe Roubertie; Stéphane Auvin; Patrick Berquin; Christian Richelme; Catherine Allaire; Sophie Gueden; Sylvie Nguyen The Tich; Bertrand Godet; Maria Luz Ruiz Falco Rojas; Jaume Campistol Planas; Antonio Martinez Bermejo; Patricia Smeyers Dura; Susana Roldan Aparicio; Maria Jesus Martinez Gonzalez; Javier Lopez Pison; Manuel Oscar Blanco Barca; Eduardo Lopez Laso; Olga Alonso Luengo; Francisco Javier Aguirre Rodriguez; Ignacio Malaga Dieguez; Ana Camacho Salas; Itxaso Marti Carrera; Eduardo Martinez Salcedo; Maria Eugenia Yoldi Petri; Ramon Cancho Candela; Ines da Conceicao Carrilho; Jose Pedro Vieira; José Paulo da Silva Oliveira Monteiro; Miguel Jorge Santos de Oliveira Ferreira Leao; Catarina Sofia Marceano Ribeiro Luis; Carla Pires Mendonca; Milda Endziniene; Jurgis Strautmanis; Inga Talvik; Maria Paola Canevini; Antonio Gambardella; Dario Pruna; Salvatore Buono; Elena Fontana; Bernardo Dalla Bernardina; Carmen Burloiu; Iuliu Stefan Bacos Cosma; Mihaela Adela Vintan; Laura Popescu; Karel Zitterbart; Jaroslava Payerova; Ladislav Bratsky; Zuzana Zilinska; Ursula Gruber-Sedlmayr; Matthias Baumann; Edda Haberlandt; Kevin Rostasy; Ekaterina Pataraia; Frances Elmslie; Clare Ann Johnston; Pamela Crawford; Peter Uldall; Paul Uvebrant; Olof Rask; Marit Bjoernvold; Eylert Brodtkorb; Andreas Sloerdahl; Ragnar Solhoff; Martine Sofie Gilje Jaatun; Marek Mandera; Elzbieta Janina Radzikowska; Mariusz Wysocki; Michael Fischereder; Gerhard Kurlemann; Bernd Wilken; Adelheid Wiemer-Kruel; Klemens Budde; Klaus Marquard; Markus Knuf; Andreas Hahn; Hans Hartmann; Andreas Merkenschlager; Regina Trollmann

Frontiers in Neurology, Vol 11 (2020)

Johannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez, Eduardo; Lal, Dennis; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju; Deprez, Marie; de Waele, Liesbeth; Brilstra, Eva; Verbeek, Nienke E.; van Kempen, Marjan van Kempen; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Sternman, David; Vaher, Ulvi; Smol, Thomas; Kennedy, Joanna; Klein, Karl Martin; Au, Billie; Smyth, Kimberly; Morgan, Thomas; Dewenter, Malin; Dinopoulos, Argirios; Lederer, Damien; Liao, Vivian; Ahring, Philip K.; Moller, Rikke S.; Gardella, Elena

European Journal of Human Genetics. 30(Suppl. 1):278-279

Karas, Antonina; Jiang, Yuwu; Zou, Liping; Xu, Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi, Ching-Shiang; Huang, Chao-Ching; Riney, Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang, Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong, Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatz, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst, Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne, Pierre; de Waele, Liesbeth; Leroy, Patricia; Demonceau, Nathalie; Legros, Benjamin; van Bogaert, Patrick; Ceulemans, Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne de St; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan, Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin, Stephane; Berquin, Patrick; Richelme, Christian; Allaire, Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet, Bertrand; Rojas, Maria Luz Ruiz Falco; Planas, Jaume Campistol; Bermejo, Antonio Martinez; Dura, Patricia Smeyers; Aparicio, Susana Roldan; Gonzalez, Maria Jesus Martinez; Pison, Javier Lopez; Barca, Manuel Oscar Blanco; Laso, Eduardo Lopez; Luengo, Olga Alonso; Rodriguez, Francisco Javier Aguirre; Dieguez, Ignacio Malaga; Salas, Ana Camacho; Carrera, Itxaso Marti; Salcedo, Eduardo Martinez; Petri, Maria Eugenia Yoldi; Candela, Ramon Cancho; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; Monteiro, Jose Paulo da Silva Oliveira; Leao, Miguel Jorge Santos de Oliveira Ferreira; Luis, Catarina Sofia Marceano Ribeiro; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberland, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Uvebrant, Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf, Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; d'Amato, Lisa; d'Augeres, Guillaume Beaure; Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Shinohara, Nobuo; Horie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai, Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno, Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia Vladimirovna

Front Neurol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neurology, Vol 10 (2019)
FRONTIERS IN NEUROLOGY

Jansen, Anna C.; Belousova, Elena; Benedik, Mirjana P.; Carter; Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augeres, Guillaume Beaure; de Vries, Petrus J.; Ferreira, Jose C.; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A.; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan; Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos; Sotiris; Zonnenberg, Bernard; Kingswood, John C.; Shinohara; Nobuo; Horie, Shigeo; Kubota, Masaya; Tohyama, Jun; Imai; Katsumi; Kaneda, Mari; Kaneko, Hideo; Uchida, Yasushi; Kirino, Tomoko; Endo, Shoichi; Inoue, Yoshikazu; Uruno; Katsuhisa; Serdaroglu, Ayse; Yapici, Zuhal; Anlar, Banu; Altunbasak, Sakir; Lvova, Olga; Belyaev, Oleg Valeryevich; Agranovich, Oleg; Levitina, Elena Vladislavovna; Maksimova, Yulia; Vladimirovna; Karas, Antonina; Jiang, Yuwu; Zou, Liping; Kaifeng; Zhang, Yushi; Luan, Guoming; Zhang, Yuqin; Wang, Yi; Jin, Meiling; Ye, Dingwei; Liao, Weiping; Zhou, Liemin; Liu, Jie; Liao, Jianxiang; Yan, Bo; Deng, Yanchun; Jiang, Li; Liu, Zhisheng; Huang, Shaoping; Li, Hua; Kim, Kijoong; Chen, Pei-Lung; Lee, Hsiu-Fen; Tsai, Jeng-Dau; Chi; Ching-Shiang; Huang, Chao-Ching; Riney, Kate; Yates, Deborah; Kwan, Patrick; Likasitwattanakul, Surachai; Nabangchang; Charcrin; Chomtho, Lunliya Thampratankul Krisnachai; Katanyuwong; Kamornwan; Sriudomkajorn, Somjit; Wilmshurst, Jo; Segel, Reeval; Gilboa, Tal; Tzadok, Michal; Fattal-Valevski, Aviva; Papathanasopoulos, Panagiotis; Papavasiliou, Antigone Syrigou; Giannakodimos, Stylianos; Gatz, Stylianos; Pavlou, Evangelos; Tzoufi, Meropi; Vergeer, A. M. H.; Dhooghe, Marc; Verhelst; Helene; Roelens, Filip; Nassogne, Marie Cecile; Defresne; Pierre; De Waele, Liesbeth; Leroy, Patricia; Demonceau; Nathalie; Legros, Benjamin; Van Bogaert, Patrick; Ceulemans; Berten; Dom, Lina; Castelnau, Pierre; Martin, Anne De St; Riquet, Audrey; Milh, Mathieu; Cances, Claude; Pedespan; Jean-Michel; Ville, Dorothee; Roubertie, Agathe; Auvin; Stephane; Berquin, Patrick; Richelme, Christian; Allaire; Catherine; Gueden, Sophie; Tich, Sylvie Nguyen The; Godet; Bertrand; Rojas, Maria Luz Ruiz Falco; Planas, Jaume Campistol; Bermejo, Antonio Martinez; Dura, Patricia Smeyers; Aparicio; Susana Roldan; Gonzalez, Maria Jesus Martinez; Pison, Javier Lopez; Barca, Manuel Oscar Blanco; Laso, Eduardo Lopez; Luengo, Olga; Alonso; Rodriguez, Francisco Javier Aguirre; Dieguez, Ignacio; Malaga; Salas, Ana Camacho; Carrera, Itxaso Marti; Salcedo; Eduardo Martinez; Petri, Maria Eugenia Yoldi; Candela, Ramon; Cancho; Carrilho, Ines da Conceicao; Vieira, Jose Pedro; Monteiro, Jose Paulo da Silva Oliveira; Leao, Miguel Jorge Santos de; Oliveira Ferreira; Luis, Catarina Sofia Marceano Ribeiro; Mendonca, Carla Pires; Endziniene, Milda; Strautmanis, Jurgis; Talvik, Inga; Canevini, Maria Paola; Gambardella, Antonio; Pruna, Dario; Buono, Salvatore; Fontana, Elena; Dalla; Bernardina, Bernardo; Burloiu, Carmen; Cosma, Iuliu Stefan Bacos; Vintan, Mihaela Adela; Popescu, Laura; Zitterbart, Karel; Payerova, Jaroslava; Bratsky, Ladislav; Zilinska, Zuzana; Gruber-Sedlmayr, Ursula; Baumann, Matthias; Haberland, Edda; Rostasy, Kevin; Pataraia, Ekaterina; Elmslie, Frances; Johnston, Clare Ann; Crawford, Pamela; Uldall, Peter; Uvebrant; Paul; Rask, Olof; Bjoernvold, Marit; Brodtkorb, Eylert; Sloerdahl, Andreas; Solhoff, Ragnar; Jaatun, Martine Sofie Gilje; Mandera, Marek; Radzikowska, Elzbieta Janina; Wysocki, Mariusz; Fischereder, Michael; Kurlemann, Gerhard; Wilken, Bernd; Wiemer-Kruel, Adelheid; Budde, Klemens; Marquard, Klaus; Knuf; Markus; Hahn, Andreas; Hartmann, Hans; Merkenschlager, Andreas; Trollmann, Regina; TOSCA Consortium; TOSCA Investigators

Emma M Jenkinson; Mathieu P Rodero; Paul R Kasher; Carolina Uggenti; Anthony Oojageer; Laurence C Goosey; Yoann Rose; Christopher J Kershaw; Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; James O'Sullivan; Gabriela M Baerlocher; Monika Haubitz; Geraldine Aubert; Kristin W Barañano; Angela J Barnicoat; Roberta Battini; Andrea Berger; Edward M Blair; Janice E Brunstrom-Hernandez; Johannes A Buckard; David M Cassiman; Rosaline Caumes; Duccio M Cordelli; Liesbeth M De Waele; Alexander J Fay; Patrick Ferreira; Nicholas A Fletcher; Alan E Fryer; Himanshu Goel; Cheryl A Hemingway; Marco Henneke; Imelda Hughes; Rosalind J Jefferson; Ram Kumar; Lieven Lagae; Pierre G Landrieu; Charles M Lourenço; Timothy J Malpas; Sarju G Mehta; Imke Metz; Sakkubai Naidu; Katrin Õunap; Axel Panzer; Prab Prabhakar; Gerardine Quaghebeur; Raphael Schiffmann; Elliott H Sherr; Kanaga R Sinnathuray; Calvin Soh; Helen S Stewart; John Stone; Hilde Van Esch; Christine E G Van Mol; Adeline Vanderver; Emma L Wakeling; Andrea Whitney; Graham D Pavitt; Sam Griffiths-Jones; Gillian I Rice; Patrick Revy; Marjo S van der Knaap; John H Livingston; Raymond T O'Keefe; Yanick J Crow

Nat Genet
Jenkinson, E M, Rodero, M P, Kasher, P R, Uggenti, C, Oojageer, A, Goosey, L C, Rose, Y, Kershaw, C J, Urquhart, J E, Williams, S G, Bhaskar, S S, O'Sullivan, J, Baerlocher, G M, Haubitz, M, Aubert, G, Baranano, K W, Barnicoat, A J, Battini, R, Berger, A, Blair, E M, Brunstrom-Hernandez, J E, Buckard, J A, Cassiman, D M, Caumes, R, Cordelli, D M, De Waele, L M, Fay, A J, Ferreira, P, Fletcher, N A, Fryer, A E, Goel, H, Hemingway, C A, Henneke, M, Hughes, I, Jefferson, R J, Kumar, R, Lagae, L, Landrieu, P G, Lourenco, C M, Malpas, T J, Mehta, S G, Metz, I, Naidu, S, Ounap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, E H, Sinnathuray, K R, Soh, C, Stewart, H S, Stone, J, Van Esch, H, Van Mol, C E G, Vanderver, A, Wakeling, E L, Whitney, A, Pavitt, G D, Griffiths-Jones, S, Rice, G I, Revy, P, van der Knaap, M S, Livingston, J H, O'Keefe, R T & Crow, Y J 2016, 'Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts', Nature Genetics, vol. 48, no. 10, pp. 1185-1192. https://doi.org/10.1038/ng.3661
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