학술논문
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'학술논문'
에서 검색결과 217건 | 목록
1~20
Academic Journal
Vicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm Graessner
Nature Genetics. 57:2361-2370
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
Academic Journal
Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmuller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Shimon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
Brain.
Academic Journal
Yépez, Vicente A.; Demidov, German; Ellwanger, Kornelia; Laurie, Steven; Luknárová, Rebeka; Joseph Maran, Midhuna Immaculate; Hentrich, Thomas; Sagath, Lydia; van der Sanden, Bart; Astuti, Galuh; Neveling, Kornelia; Batlle-Masó, Laura; Beijer, Danique; Brechtmann, Felix; Caballero-Oteyza, Andrés; Dabad, Marc; Denommé-Pichon, Anne-Sophie; Doornbos, Cenna; Eddafir, Zakaria; Estévez-Arias, Berta; Kilicarslan, Ozge Aksel; Kolen, Ingrid H. M.; Kraß, Leon; Lohmann, Katja; Londhe, Shubhankar; López-Martín, Estrella; Maassen, Kars; Macken, William; Martínez-Delgado, Beatriz; Mei, Davide; Mertes, Christian; Minardi, Raffaella; Morsy, Heba; Mueller, Juliane S.; Natera-de Benito, Daniel; Nelson, Isabelle; Oud, Machteld M.; Paramonov, Ida; Picó, Daniel; Piscia, Davide; Polavarapu, Kiran; Raineri, Emanuele; Savarese, Marco; Smal, Noor; Steehouwer, Marloes; Steyaert, Wouter; Swertz, Morris A.; Thomsen, Mirja; Töpf, Ana; Van de Vondel, Liedewei; van der Vries, Gerben; Vitobello, Antonio; Wilke, Carlo; Zurek, Birte; t’ Hoen, Peter-Bram; Matalonga, Leslie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Schulze-Hentrich, Julia; Beltran, Sergi; Esteve-Codina, Anna; Hoischen, Alexander; Gagneur, Julien; Graessner, Holm
Nature Genetics. 58(1):231-231
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Zagorec, Nikola; Calamel, Alizée; Delaporte, Margaux; Olinger, Eric; Orr, Sarah; Sayer, John A.; Pillay, Vignesh-Guru; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frederic; Nambot, Sophie; Faivre, Laurence; Ars, Elisabet; Torra, Roser; Ong, Albert C.M.; Devuyst, Olivier; Perico, Noberto; Després, Aurore Michel; Lemoine, Hugo; de Fallois, Jonathan; Brousse, Romain; Hummel, Aurélie; Knebelmann, Bertrand; Maisonneuve, Nathalie; Halbritter, Jan; Le Meur, Yannick; Audrézet, Marie-Pierre; Cornec-Le Gall, Emilie; Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica; Pybus, Marc; Gansevoort, Ron; Meijer, Esther; Grall, A.; Moal, M.C.; Tanquerel, T.; Hanrotel, C.; Segalen, I.; Lanfranco, L.; C, Mesguen; A, Kersale; A, Capdeville; V, Huynh; Hourmant, M.; Dantal, J.; Giral, M.; Meurette, A.; Lino, M.; Garandeau, C.; Hodemon-Corne, B.; Allain-Launay, E.; Cantarovich, D.; Blancho, G.; Hristea, D.; Couvrat, G.; Fakhouri, F.; Lavainne, F.; Vercel, C.; Chapal, M.; Le Fur, A.; Gourraud, C.; Deltombe, C.; Vigneau, C.; Morin, M.P.; Le Pogamp, P.; Frouget, T.; Gie, S.; Rivalan, J.; Laruelle, E.; Richer, C.; Lorcy, N.; Golbin, L.; Terrasse, M.; Morice, S.; Brenier, H.; Michel, A.; Tomkiewicz, E.; Nguyen, Q.L.; Vabret, E.; Lavergne, A.; Pierre, E.; Chemouny, J.; Halimi, J.M.; Longuet, H.; Gatault, P.; Merieau, E.; Barbet, C.; Buchler, M.; Golea, G.; Ghouti, L.; Gautard, D.; Sautenet, B.; François, M.; Fournier, A.; Baron, C.; Salmon, C.; Rabot, N.; Prat, L.; Valentin, J.F.; Chevallier, E.; Birmele, B.; Genest, C.; Goin, N.; Goumard, A.; Bridoux, F.; Desport, E.; Thierry, A.; Ecotiere, L.; Touchard, G.; Belmouaz, M.; Javaugue, V.; Bauwens, M.; Fride-Leroy, F.; Goussard, G.; Bouteau, I.; Jacquemont, L.; Subra, J.F.; Augusto, J.F.; Duveau, A.; Besson, V.; Cousin, M.; Sayegh, J.; Onno, C.; Maghakian, M.N.; Demiselle, J.; Deschamps, C.; Garnier, A.S.; Guibert, F.; Planchais, M.; Charasse, C.; Stanescu, C.; Le Cacheux, P.; Baluta, S.; Leonetti, F.; Boulahrouz, R.; Ferrier, M.L.; Freguin, C.; Simon, A.; Potier, J.; Coulibaly, J.M.; Colombo, A.; Delezire, A.; Renaudineau, E.; Dolley-Hitze, T.; Perrichot, R.; Michez, E.; Mandart, L.; Menoyo, V.; Pincon, E.; Muresan, C.; Durand, P.Y.; Corlu, L.; Wegner, I.; Siohan, P.; Metes, I.; Guyon-Roger, T.; Wehbe, B.; Gueguen, L.; Drouet, C.; Loheac, C.; Sawadogo, T.; Le Guillou, A.; Le Jeune, M.; Beillard, G.; Lefevre, S.; Chamontin, C.; Georgescu, S.; Jousset, P.; Latif, R.; Massad, M.; Jaulin, J.P.; Querard, A.H.; Ottavioli, J.N.; Target, N.; Chapal, A.; Charpy, V.; Besnier, D.; Regnier-Le Coz, S.; Blanpain, A.; Durault, S.; Larmet, D.; Le Clech, A.; Pouteau, L.M.; Labatut, D.; Coindre, J.P.; Sigogne, M.; Piccoli, G.; Bachelet-Rousseau, C.; Delbes, S.; Fritz, O.; Pourreau, F.; Mzoughi, S.; Guillodo, M.P.; Gosselin, M.; Depraetre, P.; Strullu, B.; Chaffara, E.; Le Mee, M.; Terki, N.; Goulesque, K.; Benarbia, S.; Dimulescu, M.; Rifaat, M.; Duneau, G.; Legrand, D.; Georges, E.; Seret, G.; Babinet, F.; Lanoiselee, S.; Savoiu, C.; Testa, A.; Oancea, I.; Coupel, I.; Parahy, S.; Lefrancois, G.; Briand, E.; Bugnon, D.; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boustred, Christopher R.; Brittain, Helen; Chan, Georgia C.; Fowler, Tom; Giess, Adam; Hamblin, Angela; Hubbard, Tim J.P.; Jackson, Rob; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Murugaesu, Nirupa; O’Donovan, Peter; Odhams, Chris A.; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thompson, Simon R.; Welland, Matthew J.; Williams, Eleanor; Boardman-Pretty, Freya; Moutsianas, Loukas; Mueller, Michael; Caulfield, Mark J.; Elgar, Greg; Henderson, Shirley; Jones, Louise J.; Kasperaviciute, Dalia; Need, Anna C.; Patch, Christine; Sosinsky, Alona; Thomas, Ellen R.A.; Tucci, Arianna; Witkowska, Katarzyna; Wood, Suzanne M.
American Journal of Kidney Diseases. 85(4):465-476
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Emmylou C. Nicolas-Martinez; Olivia Robinson; Christian Pflueger; Alison Gardner; Mark A. Corbett; Tarin Ritchie; Thessa Kroes; Clare L. van Eyk; Ingrid E. Scheffer; Michael S. Hildebrand; Jean-Vianney Barnier; Véronique Rousseau; David Genevieve; Virginie Haushalter; Amélie Piton; Anne-Sophie Denommé-Pichon; Ange-Line Bruel; Sophie Nambot; Bertrand Isidor; John Grigg; Tina Gonzalez; Sondhya Ghedia; Rhett G. Marchant; Adam Bournazos; Wui-Kwan Wong; Richard I. Webster; Frances J. Evesson; Kristi J. Jones; Dimitar N. Azmanov; Christopher P. Barnett; Simon C. Barry; Gareth Baynam; Samuel F. Berkovic; John Christodoulou; David J. Coman; Sandra Cooper; Martin Delatycki; Tracy E. Dudding; Sue Fletcher; Alison E. Gardner; Jozef Gecz; Megan J. Higgins; Lachlan A. Jolly; Ryan Lister; Julie McGaughran; Cathryn Poulton; Tony Roscioli; Ingrid Scheffer Hamish S. Scott; Andrew H. Sinclair; Amanda B. Spurdle; Tiong Y. Tan; Irina Voineagu; Sandra T. Cooper
Am J Hum Genet
Academic Journal
Yuji Nakamura; Issei S Shimada; Reza Maroofian; Micol Falabella; Maha S Zaki; Masanori Fujimoto; Emi Sato; Hiroshi Takase; Shiho Aoki; Akihiko Miyauchi; Eriko Koshimizu; Satoko Miyatake; Yuko Arioka; Mizuki Honda; Takayoshi Higashi; Fuyuki Miya; Yukimune Okubo; Isamu Ogawa; Annarita Scardamaglia; Mohammad Miryounesi; Sahar Alijanpour; Farzad Ahmadabadi; Peter Herkenrath; Hormos Salimi Dafsari; Clara Velmans; Mohammed Al Balwi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Médéric Jeanne; Antoine Civit; Mohamed S Abdel-Hamid; Hamed Naderi; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Christopher J Carroll; Ehsan Ghayoor Karimiani; Rozhgar A Khailany; Talib Adil Abdulqadir; Mehmet Ozaslan; Peter Bauer; Giovanni Zifarelli; Tahere Seifi; Mina Zamani; Chadi Al Alam; Javeria Raza Alvi; Tipu Sultan; Stephanie Efthymiou; Simon A S Pope; Kazuhiro Haginoya; Tamihide Matsunaga; Hitoshi Osaka; Naomichi Matsumoto; Norio Ozaki; Yasuyuki Ohkawa; Shinya Oki; Tatsuhiko Tsunoda; Robert D S Pitceathly; Yoshitaka Taketomi; Henry Houlden; Makoto Murakami; Yoichi Kato; Shinji Saitoh
Brain
Academic Journal
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner
Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
Laurie, S.; Steyaert, W.A.R.; de Boer, E.; Polavarapu, K.; Schuermans, N.; Sommer, A.K.; Demidov, G.; Ellwanger, K.; Paramonov, I.; Thomas, C.; Aretz, S.; Baets, J.; Benetti, E.; Bullich, G.; Chinnery, P.F.; Clayton-Smith, J.; Cohen, E.; Danis, D.; de Sainte Agathe, J.M.; Denommé-Pichon, A.S.; Diaz-Manera, J.; Efthymiou, S.; Faivre, L.; Fernandez-Callejo, M.; Freeberg, M.; Garcia-Pelaez, J.; Guillot-Noel, L.; Haack, T.B.; Hanna, M.; Hengel, H.; Horvath, R.; Houlden, H.; Jackson, A.; Johansson, L.; Johari, M.; Kamsteeg, E.J.; Kellner, M.; Kleefstra, T.; Lacombe, D.; Lochmüller, H.; López-Martín, E.; Macaya, A.; Marcé-Grau, A.; Maver, A.; Morsy, H.; Muntoni, F.; Musacchia, F.; Nelson, I.; Nigro, V.; Olimpio, C.; Oliveira, C.; Paulasová Schwabová, J.; Pauly, M.G.; Peterlin, B.; Peters, Sophia; Pfundt, R.P.; Piluso, G.; Piscia, D.; Posada, M.; Reich, S.; Renieri, A.; Ryba, L.; Sablauskas, K.; Savarese, M.; Schöls, L.; Schütz, L.; Steinke-Lange, V.; Stevanin, G.; Straub, V.; Sturm, M.; Swertz, M.A.; Tartaglia, M.; te Paske, I.B.A.W.; Thompson, R.; Torella, A.; Trainor, C.; Udd, B.; Van de Vondel, L.; van de Warrenburg, B.P.C.; van Reeuwijk, J.; Vandrovcova, J.; Vitobello, A.; Vos, J.R.; Vyhnálková, E.; Wijngaard, R.; Wilke, C.; William, D.; Xu, Jishu; Yaldiz, B.; Zalatnai, L.; Zurek, B.; Brookes, A.J.; Evangelista, T.; Gilissen, C.F.H.A.; Graessner, H.; Hoogerbrugge, N.; Ossowski, S.; Riess, O.; Schüle, R.; Synofzik, M.; Verloes, A.; Matalonga, L.; Brunner, H.G.; Lohmann, K.; de Voer, R.M.; Töpf, A.; Vissers, L.E.L.M.; Beltran, S.; Hoischen, A.
Academic Journal
Yépez, V.A.; Demidov, G.; Ellwanger, K.; Laurie, S.; Luknárová, R.; Joseph Maran, M.I.; Hentrich, T.; Sagath, L.; van der Sanden, B.; Astuti, G.D.N; Neveling, K.; Batlle-Masó, L.; Beijer, D.; Brechtmann, F.; Caballero-Oteyza, A.; Dabad, M.; Denommé-Pichon, A.S.; Doornbos, C.; Eddafir, Z.; Estévez-Arias, B.; Kilicarslan, O.A.; Kolen, I.H.M.; Kraß, L.; Lohmann, K.; Londhe, S.; López-Martín, E.; Maassen, K.; Macken, W.; Martínez-Delgado, B.; Mei, D.; Mertes, C.; Minardi, R.; Morsy, H.; Mueller, J.S.; Natera-de Benito, D.; Nelson, I.; Oud, M.M.; Paramonov, I.; Picó, D.; Piscia, D.; Polavarapu, K.; Raineri, E.; Savarese, M.; Smal, N.; Steehouwer, M.; Steyaert, W.; Swertz, M.A.; Thomsen, M.; Töpf, A.; Van de Vondel, L.; van der Vries, G.; Vitobello, A.; Wilke, C.; Zurek, B.; 't Hoen, P.A.C.; Matalonga, L.; Vissers, L.E.L.M.; Gilissen, C.F.H.A.; Schulze-Hentrich, J.; Beltran, S.; Esteve-Codina, A.; Hoischen, A.; Gagneur, J.; Graessner, H.
Academic Journal
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; De Wachter, Matthias; Koudijs, Suzanna V; Van Esch, Hilde
Epilepsia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
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 V, 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 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876
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 . https://doi.org/10.1111/epi.17876
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
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,
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,
Academic Journal
Schmetz, A.; Lüdecke, H. J.; Surowy, H.; Sivalingam, S.; Bruel, A. L.; Caumes, R.; Charles, P.; Chatron, N.; Chrzanowska, K.; Codina-Solà, M.; Colson, C.; Cuscó, I.; Denommé-Pichon, A. S.; Edery, P.; Faivre, L.; Green, A.; Heide, S.; Hsieh, T. C.; Hustinx, A.; Kleinendorst, L.; Knopp, C.; Kraft, F.; Krawitz, P. M.; Lasa-Aranzasti, A.; Lesca, G.; López-González, V.; Maraval, J.; Mignot, C.; Neuhann, T.; Netzer, C.; Oehl-Jaschkowitz, B.; Petit, Florence; Philippe, C.; Posmyk, R.; Putoux, A.; Reis, A.; Sánchez-Soler, M. J.; Suh, J.; Tkemaladze, T.; Tran Mau Them, F.; Travessa, A.; Trujillano, L.; Valenzuela, I.; van Haelst, M. M.; Vasileiou, G.; Vincent-Delorme, C.; Walther, M.; Verde, P.; Bramswig, N. C.; Wieczorek, D.
Schmetz, A, Lüdecke, H-J, Surowy, H, Sivalingam, S , Bruel, A-L, Caumes, R, Charles, P, Chatron, N, Chrzanowska, K, Codina-Solà, M, Colson, C, Cuscó, I, Denommé -Pichon , A-S , Edery, P, Faivre, L, Green, A, Heide, S , Hsieh, T-C, Hustinx, A, Kleinendorst, L, Knopp, C, Kraft, F, Krawitz, P M, Lasa-Aranzasti, A, Lesca, G, López-González, V, Maraval, J, Mignot, C, Neuhann, T, Netzer, C, Oehl-Jaschkowitz, B, Petit, F, Philippe, C, Posmyk, R, Putoux, A, Reis, A, Sánchez-Soler, M J, Suh, J, Tkemaladze, T, Tran Mau Them, F, Travessa, A, Trujillano, L, Valenzuela, I, van Haelst, M M, Vasileiou, G, Vincent-Delorme, C, Walther, M, Verde, P, Bramswig, N C & Wieczorek, D 2023, 'Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals', Human Genetics. https://doi.org/10.1007/s00439-023-02622-5
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
E. Viora‐Dupont; A. Denommé‐Pichon; M. Chevarin; O. Patat; M. Willems; N. Bourgon; A. Bruel; M. Aubert‐Mucca; M. Galinier; R. Itier; S. Decramer; A. Piton; B. Gerard; C. Billon; X. Jeunemaitre; Y. Duffourd; P. Callier; C. Thauvin; C. Philippe; L. Faivre; J. Albuisson; A. Vitobello
American Journal of Medical Genetics Part A. 191:2728-2735
Academic Journal
Amato, Maria Eugenia ; Balsells, Sol ; Martorell, Loreto ; Alcalá San Martín, Adrián ; Ansell, Karen ; Børresen, Malene Landbo ; Johnson, Heather ; Korff, Christian ; Garcia-Tarodo, Stephanie ; Lefranc, Jeremie ; Denommé-Pichon, Anne-Sophie ; Sarrazin, Elisabeth ; Szabo, Nora Zsuzsanna ; Saraiva, Jorge M. ; Wicher, Dorota ; Goverde, Anne ; Bindels-de Heus, Karen G.C.B. ; Barakat, Tahsin Stefan ; Ortigoza-Escobar, Juan Darío
In European Journal of Paediatric Neurology November 2024 53:63-72
Academic Journal
Mark Stevenson; Asha L. Bayliss; Victoria J. Stokes; Katherine A. English; Kreepa G. Kooblall; Roman Fischer; Raphael Heilig; Iolanda Vendrell; Maria E. W. A. Albers; Meghan Bartos; Amber Begtrup; Alexia Bourgois; Rebecca Buchert; David J. Carey; Deanna A. Carere; Amanda Carnevale; Kristl G. Claeys; Benjamin Cogne; Gregory Costain; Nicole de Leeuw; Anne-Sophie Denommé-Pichon; Elizabeth J. Donner; Eftychia Drogouti; David A. Dyment; Balram Gangaram; Tobias B. Haack; Jeremy S. Haley; Solveig Heide; Ralf A. Husain; Bertrand Isidor; Louise Izatt; Adeline Jacquinet; Jane Juusola; Juliette J. Kahle; Boris Keren; Eric W. Klee; Evgenia Kokosali; Brendan C. Lanpher; Erica L. Macke; Elysa J. Marco; Kirsty McWalter; Bryce A. Mendelsohn; Aubrey Milunsky; Matthew Osmond; Amelie Piton; Angelika Riess; Valentin Ruault; Patrick Rump; Sarah Schuhmann; Amelle L. Shillington; Diane T. Smelser; Lot Snijders Blok; Frederic Tran Mau-Them; Christos Tsakalidis; Abigail Turnwald; Koen L. I. Van Gassen; Kristof Van Schil; Georgia Vasileiou; Marissa Vawter-Lee; Marjolaine Willems; Marjolein H. Willemsen; Lily C. Wong-Kisiel; Antje Wonneberger; Ioannis Zaganas; Fadil M. Hannan; Kate E. Lines; Rajesh V. Thakker
Academic Journal
Marcello Scala; Masashi Nishikawa; Hidenori Ito; Hidenori Tabata; Tayyaba Khan; Andrea Accogli; Laura Davids; Anna Ruiz; Pietro Chiurazzi; Gabriella Cericola; Björn Schulte; Kristin G Monaghan; Amber Begtrup; Annalaura Torella; Michele Pinelli; Anne Sophie Denommé-Pichon; Antonio Vitobello; Caroline Racine; Maria Margherita Mancardi; Courtney Kiss; Andrea Guerin; Wendy Wu; Elisabeth Gabau Vila; Bryan C Mak; Julian A Martinez-Agosto; Michael B Gorin; Bugrahan Duz; Yavuz Bayram; Claudia M B Carvalho; Jaime E Vengoechea; David Chitayat; Tiong Yang Tan; Bert Callewaert; Bernd Kruse; Lynne M Bird; Laurence Faivre; Marcella Zollino; Saskia Biskup; Gabrielle Brown; Manish J Butte; Esteban C Dell'Angelica; Naghmeh Dorrani; Emilie D Douine; Brent L Fogel; Irma Gutierrez; Alden Huang; Deborah Krakow; Hane Lee; Sandra K Loo; Martin G Martin; Julian A Martínez-Agosto; Elisabeth McGee; Stanley F Nelson; Shirley Nieves-Rodriguez; Christina G S Palmer; Jeanette C Papp; Neil H Parker; Genecee Renteria; Janet S Sinsheimer; Jijun Wan; Lee-kai Wang; Katherine Wesseling Perry; Vincenzo Nigro; Nicola Brunetti-Pierri; Giorgio Casari; Gerarda Cappuccio; Francesco Musacchia; Margherita Mutarelli; Diego Carrella; Giuseppina Vitiello; Valeria Capra; Giancarlo Parenti; Vincenzo Leuzzi; Angelo Selicorni; Silvia Maitz; Sandro Banfi; Mario Montomoli; Donatelli Milani; Corrado Romano; Albina Tummolo; Daniele De Brasi; Antonietta Coppola; Claudia Santoro; Angela Peron; Chiara Pantaleoni; Raffaele Castello; Stefano D’Arrigo; Pasquale Striano; Mariasavina Severino; Gregory Costain; Koh ichi Nagata
Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Brain : a journal of neurology, vol 145, iss 9
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BRAIN
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Brain : a journal of neurology, vol 145, iss 9
Academic Journal
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics. 31(9):1023-1031
Academic Journal
Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S.A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Andersen, C.B.; Varvagiannis, K.; Kleefstra, T.; Gérard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denommé-Pichon, A.S.; Vincent-Devulder, A.; Haack, T.; Marsh, J.A.; Laulund, L.W.; Grimmel, M.; Riess, A.; Boer, E. de; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M.C.; Levy, J.; Verloes, A.; Abbott, C.M.; Ruaud, L.
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