학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Schoenmakers, Daphne H; Asbreuk, Marije A B C; Martin, Tamara; Datema, Mareen; Beerepoot, Shanice; Inbar-Feigenberg, Michal; Groeschel, Samuel; Kehrer, Christiane; Øberg, Andreas; Sevin, Caroline; Fumagalli, Francesca; Bergner, Caroline G; Vieira, Päivi; Bley, Annette; Uusimaa, Johanna; Horn, Morten Andreas; Brožová, Klára; Stögmann, Eva; Pichler, Herbert; Lüftinger, Roswitha; Eklund, Erik A; Mochel, Fanny; Adang, Laura A; Laugwitz, Lucia; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; García-Cazorla, Ángeles; Grønborg, Sabine W; Lindemans, Caroline A; van Hasselt, Peter M; Hollak, Carla E M; de Koning, Tom J; Ram, Dipak; Dekker, Hanka; Schöls, Ludger; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I
European Journal of Paediatric Neurology. 57:72-81
Academic Journal
Laugwitz, Lucia; Schoenmakers, Daphne H.; Adang, Laura A.; Beck-Woedl, Stefanie; Bergner, Caroline; Bernard, Geneviève; Bley, Annette; Boyer, Audrey; Calbi, Valeria; Dekker, Hanka; Eichler, Florian; Eklund, Erik; Fumagalli, Francesca; Gavazzi, Francesco; Grønborg, Sabine W.; van Hasselt, Peter; Langeveld, Mirjam; Lindemans, Caroline; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Saunier-Vivar, Elise; Schöls, Ludger; Scholz, Michael; Sevin, Caroline; Zerem, Ayelet; Wolf, Nicole I.; Groeschel, Samuel
European Journal of Paediatric Neurology. 49:141-154
Editorial & Opinion
Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A.B.C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; García Cazorla, Ángeles; Grønborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E.M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Øberg, Andreas; Ram, Dipak; Sevin, Caroline; Schöls, Ludger; Zerem, Ayelet; Wolf, Nicole I.; Fumagalli, Francesca
Protein and Cell. 16(1):12-15
Academic Journal
Schoenmakers, Daphne H.; Mochel, Fanny; Adang, Laura A.; Boelens, Jaap Jan; Calbi, Valeria; Eklund, Erik A.; Grønborg, Sabine W.; Fumagalli, Francesca; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Schöls, Ludger; Ram, Dipak; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I.
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Videbæk, Cecilie S. ; Dunø, Morten ; Lindquist, Suzanne G. ; Larsen, Vibeke A. ; Kjær, Martin W. ; Melgaard, Lars ; Nielsen, Jørgen E. ; Grønborg, Sabine W. ; Lund, Allan M.
In Molecular Genetics and Metabolism December 2025 146(4)
Academic Journal
International Journal of Neonatal Screening. December, 2024, Vol. 10 Issue 4
Academic Journal
Academic Journal
Alcazar-Fabra, Maria; Ostergaard, Elsebet; Fernandez-Ayala, Daniel J. M.; Desbats, Maria Andrea; Morbidoni, Valeria; Tomas-Gallado, Laura; Garcia-Corzo, Laura; Blanquer-Rosello, Maria del Mar; Bartlett, Abigail K.; Sanchez-Cuesta, Ana; Sena, Lucia; Cortes-Rodriguez, Ana; Cascajo-Almenara, Maria Victoria; Pagliarini, David J.; Trevisson, Eva; Gronborg, Sabine W.; Brea-Calvo, Gloria
Academic Journal
Johnson, Brett V.; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Pinto e Vairo, Filippo; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Rosenfeld, Jill A.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; Hollander, Nicolette den; Hoffer, Mariëtte J.V.; Reijnders, Margot R.F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G.B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William
Biological Psychiatry. 87(2):100-112
Academic Journal
Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(9):965-975
Academic Journal
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)
Brain
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, AW , 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, 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
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli,W , Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, 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, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W -H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
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, AW , 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, 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)
Brain
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
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli,
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
Review
Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Garavelli, Livia
Journal of Medical Genetics. 60(12):1224-1234
Academic Journal
Rauan Kaiyrzhanov; Sami E.M. Mohammed; Reza Maroofian; Ralf A. Husain; Alessia Catania; Alessandra Torraco; Ahmad Alahmad; Marina Dutra‐Clarke; Sabine Grønborg; Annapurna Sudarsanam; Julie Vogt; Filippo Arrigoni; Júlia Baptista; Shahzad Haider; René G. Feichtinger; Paolo Bernardi; Alessandra Zulian; Mirjana Gušić; Stéphanie Efthymiou; Renkui Bai; Farah Bibi; Alejandro Horga; Julian A. Martínez‐Agosto; Amanda Lam; Andreea Manole; Diego Pérez‐Rodríguez; Romina Durigon; Angela Pyle; Buthaina Albash; Carlo Dionisi‐Vici; David Murphy; Diego Martinelli; Enrico Bugiardini; Katrina Allis; Costanza Lamperti; Siegfried Reipert; Lotte Risom; Lucia Laugwitz; Michela Di Nottia; Robert McFarland; Laura Vilarinho; Michael G. Hanna; Holger Prokisch; Johannes A. Mayr; Enrico Bertini; Daniele Ghezzi; Elsebet Østergaard; Saskia B. Wortmann; Rosalba Carrozzo; Tobias B. Haack; Robert W. Taylor; Antonella Spinazzola; Karin Nowikovsky; Henry Houlden
Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 109, 9, pp. 1692-1712
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M,Grønborg , S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, Durigon, R, Pyle, A, Albash, B, Dionisi-Vici, C, Murphy, D, Martinelli, D, Bugiardini, E, Allis, K, Lamperti, C, Reipert, S, Risom, L, Laugwitz, L, Di Nottia, M, McFarland, R, Vilarinho, L, Hanna, M, Prokisch, H, Mayr, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W , Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
Am. J. Hum. Genet. 109, 1692-1712 (2022)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 109, 9, pp. 1692-1712
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M,
Am. J. Hum. Genet. 109, 1692-1712 (2022)
Academic Journal
Katrine M Johannesen; Yuanyuan Liu; Cathrine E Gjerulfsen; Mahmoud Koko; Lukas Sonnenberg; Julian Schubert; Christina D Fenger; Ahmed Eltokhi; Maert Rannap; Nils A. Koch; Stephan Lauxmann; Johanna Krüger; Josua Kegele; Laura Canafoglia; Silvana Franceschetti; Thomas Mayer; Johannes Rebstock; Pia Zacher; Susanne Ruf; Michael Alber; Katalin Sterbova; Petra Lassuthová; Marketa Vlckova; Johannes R Lemke; Ilona Krey; Constanze Heine; Dagmar Wieczorek; Judith Kroell-Seger; Caroline Lund; Karl Martin Klein; PY Billie Au; Jong M Rho; Alice W Ho; Silvia Masnada; Pierangelo Veggiotti; Lucio Giordano; Patrizia Accorsi; Christina E Hoei-Hansen; Pasquale Striano; Federico Zara; Helene Verhelst; Judith S.Verhoeven; Bert van der Zwaag; Aster V. E. Harder; Eva Brilstra; Manuela Pendziwiat; Sebastian Lebon; Maria Vaccarezza; Ngoc Minh Le; Jakob Christensen; Mette U Schmidt-Petersen; Sabine Grønborg; Stephen W Scherer; Jennifer Howe; Walid Fazeli; Katherine B Howell; Richard Leventer; Chloe Stutterd; Sonja Walsh; Marion Gerard; Bénédicte Gerard; Sara Matricardi; Claudia M Bonardi; Stefano Sartori; Andrea Berger; Dorota Hoffman-Zacharska; Massimo Mastrangelo; Francesca Darra; Arve Vøllo; M Mahdi Motazacker; Phillis Lakeman; Mathilde Nizon; Cornelia Betzler; Cecilia Altuzarra; Roseline Caume; Agathe Roubertie; Philippe Gélisse; Carla Marini; Renzo Guerrini; Frederic Bilan; Daniel Tibussek; Margarete Koch-Hogrebe; M Scott Perry; Shoji Ichikawa; Elena Dadali; Artem Sharkov; Irina Mishina; Mikhail Abramov; Ilya Kanivets; Sergey Korostelev; Sergey Kutsev; Karen E Wain; Nancy Eisenhauer; Monisa Wagner; Juliann M Savatt; Karen Müller-Schlüter; Haim Bassan; Artem Borovikov; Marie-Cecile Nassogne; Anne Destrée; An-Sofie Schoonjans; Marije Meuwissen; Marga Buzatu; Anna Jansen; Emmanuel Scalais; Siddharth Srivastava; Wen-Hann Tan; Heather E Olson; Tobias Loddenkemper; Annapurna Poduri; Katherine L Helbig; Ingo Helbig; Mark P Fitzgerald; Ethan M Goldberg; Timo Roser; Ingo Borggraefe; Tobias Brünger; Patrick May; Dennis Lal; Damien Lederer; Guido Rubboli; Gaetan Lesca; Ulrike BS Hedrich; Jan Benda; Elena Gardella; Holger Lerche; Rikke S Møller
Academic Journal
Tusch, Erich; Ryom, Lene; Pelchen-Matthews, Annegret; Mocroft, Amanda; Elbirt, Daniel; Oprea, Cristiana; Günthard, Huldrych F; Staehelin, Cornelia; Zangerle, Robert; Suarez, Isabelle; Vehreschild, Jörg Janne; Wit, Ferdinand; Menozzi, Marianna; d'Arminio Monforte, Antonella; Spagnuolo, Vincenzo; Pradier, Christian; Carlander, Christina; Suanzes, Paula; Wasmuth, Jan-Christian; Carr, Andrew; Petoumenos, Kathy; Borgans, Frauke; Bonnet, Fabrice; De Wit, Stephane; El-Sadr, Wafaa; Neesgaard, Bastian; Jaschinski, Nadine; Greenberg, Lauren; Hosein, Sean R; Gallant, Joel; Vannappagari, Vani; Young, Lital; Sabin, Caroline; Lundgren, Jens; Peters, Lars; Reekie, Joanne; El-Sadr, W; Calvo, G; Bonnet, F; Dabis, F; Kirk, O; Mocroft, A; Law, M; Monforte, A d’Arminio; Morfeldt, L; Pradier, C; Reiss, P; Weber, R; De Wit, S; Lind-Thomsen, A; Brandt, R Salbøl; Hillebreght, M; Zaheri, S; Wit, F W N M; Scherrer, A; Schöni-Affolter, F; Rickenbach, M; Tavelli, A; Fanti, I; Leleux, O; Mourali, J; Marec, F Le; Boerg, E; Thulin, E; Sundström, A; Bartsch, G; Thompsen, G; Necsoi, C; Delforge, M; Fontas, E; Caissotti, C; Dollet, K; Mateu, S; Torres, F; Petoumenos, K; Blance, A; Huang, R; Puhr, R; Laut, K Grønborg; Kristensen, D; Sabin, C A; Phillips, A N; Kamara, D A; Smith, C J; Hatleberg, C I; Brandt, R S; Raben, D; Matthews, C; Bojesen, A; Grevsen, A L; Lundgren, J D; Ryom, L; Powderly, B; Shortman, N; Moecklinghoff, C; Reilly, G; Franquet, X; Smit, C; Ross, M; Fux, C A; Morlat, P; Friis-Møller, N; Kowalska, J; Monforte, A d'Arminio; Bohlius, J; Bower, M; Fätkenheuer, G; Grulich, A; Sjøl, A; Meidahl, P; Iversen, J S; Reiss, Central P; Hillebregt, M; Prins, J M; Kuijpers, T W; Scherpbier, H J; van der Meer, J T M; Godfried, M H; van der Poll, T; Nellen, F J B; Geerlings, S E; van Vugt, M; Pajkrt, D; Bos, J C; Wiersinga, W J; van der Valk, M; Goorhuis, A; Hovius, J W; van Eden, J; Henderiks, A; van Hes, A M H; Mutschelknauss, M; Nobel, H E; Pijnappel, F J J; Jurriaans, S; Back, N K T; Zaaijer, H L; Berkhout, B; Cornelissen, M T E; Schinkel, C J; Thomas, X V; Ziekenhuis, Admiraal De Ruyter; van den Berge, M; Stegeman, A; Baas, S; de Looff, L Hage; Versteeg, D; Ziekenhuis, Catharina; Pronk, M J H; Ammerlaan, H S M; De Munnik, E S; Jansz, A R; Tjhie, J; Wegdam, M C A; Deiman, B; Scharnhorst, V; van der Plas, A; Weijsenfeld, A M; van der Ende, M E; De Vries-Sluijs, T E M S; van Gorp, E C M; Schurink, C A M; Nouwen, J L; Verbon, A; Rijnders, B J A; Bax, H I; van der Feltz, M; Bassant, N; van Beek, J E A; Vriesde, M; van Zonneveld, L M; de Oude-Lubbers, A; van den Berg-Cameron, H J; Bruinsma-Broekman, F B; de Groot, J; de Man, M de Zeeuw; Boucher, C A B; Koopmans, M P G; van Kampen, J J A; Pas, S D; MC–Sophia, Erasmus; Driessen, G J A; van Rossum, A M C; van der Knaap, L C; Visser, E; Branger, J; Rijkeboer-Mes, A; de Ven, C J H M Duijf-van; Ziekenhuis, Haga; Schippers, E F; van Nieuwkoop, C; van IJperen, J M; Geilings, J; van der Hut, G; Franck, P F H; van Eeden, A; Brokking, W; Groot, M; Elsenburg, L J M; Damen, M; Kwa, I S; Groeneveld, P H P; Bouwhuis, J W; van den Berg, J F; van Hulzen, A G W; van der Bliek, G L; Bor, P C J; Bloembergen, P; Wolfhagen, M J H M; Ruijs, G J H M; Kroon, F P; de Boer, M G J; Bauer, M P; Jolink, H; Vollaard, A M; Dorama, W; van Holten, N; Claas, E C J; Wessels, E; den Hollander, J G; Pogany, K; Roukens, A; Kastelijns, M; Smit, J V; Smit, E; Struik-Kalkman, D; Tearno, C; Bezemer, M; van Niekerk, T; Pontesilli, O; Lowe, S H; Lashof, A M L Oude; Posthouwer, D; Ackens, R P; Schippers, J; Vergoossen, R; Weijenberg-Maes, B; van Loo, I H M; Havenith, T R A; Leyten, E M S; Gelinck, L B S; van Hartingsveld, A; Meerkerk, C; Wildenbeest, G S; Mutsaers, J A E M; Jansen, C L; Mulder, J W; Vrouenraets, S M E; Lauw, F N; van Broekhuizen, M C; Paap, H; Vlasblom, D J; Smits, P H M; Zuiderzee, M C; Weijer, S; El Moussaoui, R; Bosma, A S; van Vonderen, M G A; van Houte, D P F; Kampschreur, L M; Dijkstra, K; Faber, S; Weel, J; Kootstra, G J; Delsing, C E; van der Burg-van de Plas, M; 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Clinical Infectious Diseases, 79, 5, pp. 1242-1257
Tusch, E, Ryom, L, Pelchen-Matthews, A, Mocroft, A, Elbirt, D, Oprea, C, Günthard, H F, Staehelin, C, Zangerle, R, Suarez, I, Vehreschild, J J, Wit, F, Menozzi, M, d'Arminio Monforte, A, Spagnuolo, V, Pradier, C, Carlander, C, Suanzes, P, Wasmuth, J-C, Carr, A, Petoumenos, K, Borgans, F, Bonnet, F, De Wit, S, El-Sadr,W , Neesgaard, B, Jaschinski, N, Greenberg, L, Hosein, S R, Gallant, J, Vannappagari, V, Young, L, Sabin, C, Lundgren, J, Peters, L, Reekie, J & D:A:D cohort study 2024, 'Trends in Mortality in People With HIV From 1999 through 2020 : a multi-cohort collaboration', Clinical infectious diseases : an official publication of the Infectious Diseases Society of America, vol. 79, no. 5, pp. 1242-1257. https://doi.org/10.1093/cid/ciae228
Tusch, E, Ryom, L, Pelchen-Matthews, A, Mocroft, A, Elbirt, D, Oprea, C, Günthard, H F, Staehelin, C, Zangerle, R, Suarez, I, Vehreschild, J J, Wit, F, Menozzi, M, d'Arminio Monforte, A, Spagnuolo, V, Pradier, C, Carlander, C, Suanzes, P, Wasmuth, J-C, Carr, A, Petoumenos, K, Borgans, F, Bonnet, F, De Wit, S, El-Sadr,
Academic Journal
Amarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G.
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Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie ; Lüdecke, Hermann-Josef ; van der Tuin, Karin ; Badura-Stronka, Magdalena ; Belligni, Elga ; Biamino, Elisa ; Bonati, Maria Teresa ; Carvalho, Daniel R. ; Cobben, JanMaarten ; de Man, Stella A. ; Den Hollander, Nicolette S. ; Di Donato, Nataliya ; Garavelli, Livia ; Grønborg, Sabine ; Herkert, Johanna C. ; Hoogeboom, A. Jeannette M. ; Jamsheer, Aleksander ; Latos-Bielenska, Anna ; Maat-Kievit, Anneke ; Magnani, Cinzia ; Marcelis, Carlo ; Mathijssen, Inge B. ; Nielsen, Maartje ; Otten, Ellen ; Ousager, Lilian B. ; Pilch, Jacek ; Plomp, Astrid ; Poke, Gemma ; Poluha, Anna ; Posmyk, Renata ; Rieubland, Claudine ; Silengo, Margharita ; Simon, Marleen ; Steichen, Elisabeth ; Stumpel, Connie ; Szakszon, Katalin ; Polonkai, Edit ; van den Ende, Jenneke ; van der Steen, Antony ; van Essen, Ton ; van Haeringen, Arie ; van Hagen, Johanna M. ; Verheij, Joke B.G.M. ; Mannens, Marcel M. ; Hennekam, Raoul C.
In European Journal of Medical Genetics May 2015 58(5):279-292
Academic Journal
Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido; PURA study grp
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