학술논문
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'학술논문'
에서 검색결과 437건 | 목록
1~20
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. 57(10):2361-2370
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
de Bitter, Tessa J. J.; Geerlings, Maartje J.; Kroeze, Leonie I.; von Rhein, Daniel; Schuurbiers, Milou M. F.; Bibbe, Janne M.; Smeijers, Joyce A. M. G.; Ouchene, Hicham; Gilissen, Christian; Hofste, Tom G. J.; Weiss, Marjan M.; Vissers, Lisenka E. L. M.; van den Heuvel, Michel M.; Ligtenberg, Marjolijn J. L.
Scientific Reports. 15(1)
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
Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske
Rots, D, Bouman, A, Yamada, A, Levy, M , Dingemans, A J M , de Vries, B B A, Ruiterkamp-Versteeg, M , de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E , Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M , Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M , Santen, G W E , Metcalfe, K, Park, S-M , Pasquier, L , Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M , Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M , Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L , Forzano, F, Deshpande, C, Kluskens, M L , Welling, L , Plomp, A S, Vanhoutte, E K, Kalsner, L , Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E , O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M , Pauly, M , Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M , Borch, L , Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L , van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L , Muir, A M , Sadikovic, B, Brunner, H G, Vissers , L E L M , Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy,M , Dingemans, A J M , de Vries, B B A, Ruiterkamp-Versteeg, M , de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E , Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M , Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M , Santen, G W E , Metcalfe, K, Park, S-M , Pasquier, L , Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M , Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M , Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L , Forzano, F, Deshpande, C, Kluskens, M L , Welling, L , Plomp, A S, Vanhoutte, E K, Kalsner, L , Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E , O'Shea, J, Lederer, D, Fleischer, J, Pauly, M , Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M , Borch, L , Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L , van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L , Sadikovic, B, Brunner, H G, Vissers , L E L M , Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy,
Academic Journal
Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P. M.; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G.; Yntema, Helger G.; Vissers, Lisenka E. L. M.
European Journal of Human Genetics. 33(1):56-64
Academic Journal
Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
Nature Medicine. 30(7):1994-2003
Academic Journal
Anouk E. J. Janssen; Rebekka M. Koeck; Rick Essers; Ping Cao; Wanwisa van Dijk; Marion Drüsedau; Jeroen Meekels; Burcu Yaldiz; Maartje van de Vorst; Bart de Koning; Debby M. E. I. Hellebrekers; Servi J. C. Stevens; Su Ming Sun; Malou Heijligers; Sonja A. de Munnik; Chris M. J. van Uum; Jelle Achten; Lars Hamers; Marjan Naghdi; Lisenka E. L. M. Vissers; Ron J. T. van Golde; Guido de Wert; Jos C. F. M. Dreesen; Christine de Die-Smulders; Edith Coonen; Han G. Brunner; Arthur van den Wijngaard; Aimee D. C. Paulussen; Masoud Zamani Esteki
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariëtte J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-José H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Human Genetics. 143(6):761-773
Academic Journal
German Demidov; Burcu Yaldiz; José Garcia-Pelaez; Elke de Boer; Nika Schuermans; Liedewei Van de Vondel; Ida Paramonov; Lennart F. Johansson; Francesco Musacchia; Elisa Benetti; Gemma Bullich; Karolis Sablauskas; Sergi Beltran; Christian Gilissen; Alexander Hoischen; Stephan Ossowski; Richarda de Voer; Katja Lohmann; Carla Oliveira; Ana Topf; Lisenka E. L. M. Vissers; Solve-RD Consortium; Steven Laurie
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
Academic Journal
Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortia, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien
Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics
Academic Journal
Motta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Guarnetti Prandi, Ingrid; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cédric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E L M; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni; Schuh, Kai; Cavé, Hélène; Zenker, Martin; Tartaglia, Marco
American Journal of Human Genetics, 108, 11, pp. 2112-2129
Academic Journal
Schobers, Gaby; Derks, Ronny; den Ouden, Amber; Swinkels, Hilde; van Reeuwijk, Jeroen; Bosgoed, Ermanno; Lugtenberg, Dorien; Sun, Su Ming; Corominas Galbany, Jordi; Weiss, Marjan; Blok, Marinus J.; Olde Keizer, Richelle A. C. M.; Hofste, Tom; Hellebrekers, Debby; de Leeuw, Nicole; Stegmann, Alexander; Kamsteeg, Erik-Jan; Paulussen, Aimee D. C.; Ligtenberg, Marjolijn J. L.; Bradley, Xiangqun Zheng; Peden, John; Gutierrez, Alejandra; Pullen, Adam; Payne, Tom; Gilissen, Christian; van den Wijngaard, Arthur; Brunner, Han G.; Nelen, Marcel; Yntema, Helger G.; Vissers, Lisenka E. L. M.
Genome Medicine. 16(1)
Academic Journal
Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Schüle, Rebecca; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortium, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien
European journal of human genetics 29(9), 1466-1469 (2021). doi:10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Nejad-Rashidi, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer, Mostafa Zohour ; El Fahime, Elmostafa ; Canavati, Christin ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Maia, Elias Rayana ; Mansoor, Salehi ; Vivek, Jain ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; Ei-Awady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor, Eshan Karimiani ; Campeau, Philippe ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine September 2024
Academic Journal
Haer-Wigman, Lonneke; den Ouden, Amber; Derks, Ronny; van Genderen, Maria M.; Lugtenberg, Dorien; Verheij, Joke; Vijzelaar, Raymon; Yntema, Helger G.; Vissers, Lisenka E. L. M.; Neveling, Kornelia
npj Genomic Medicine. 9(1)
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E L M; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M; Lyons, Michael J; Carvalho, Claudia M B; Zhang, Chaofan; Lupski, James R; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J A; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Genome Med
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Genome Medicine, 16, 1
Genome medicine, vol. 16, no. 1, pp. 72
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Genome Medicine, 16, 1
Genome medicine, vol. 16, no. 1, pp. 72
Academic Journal
Wijngaard, Robin; Demidov, German; O’Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Töpf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian
European Journal of Human Genetics. 32(2):200-208
Academic Journal
de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; null, null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vitobello, Antonio; Rodenburg, Richard J.; Coenen, Marieke J. H.; Janssen, Mirian; Henssen, Dylan; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Trimouille, Aurélien; Vissers, Lisenka E. L. M.
Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 29, 9, pp. 1359-1368
Solve-RD SNV-indel working group & Solve-RD DITF-ITHACA 2021, 'A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis', European Journal of Human Genetics, vol. 29, no. 9, pp. 1359-1368. https://doi.org/10.1038/s41431-021-00900-2
Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 29, 9, pp. 1359-1368
Solve-RD SNV-indel working group & Solve-RD DITF-ITHACA 2021, 'A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis', European Journal of Human Genetics, vol. 29, no. 9, pp. 1359-1368. https://doi.org/10.1038/s41431-021-00900-2
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan, Jr.; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Lin, Sheng-Jia ; Jones, Elizabeth A. ; Chandler, Kate E. ; Orr, David ; Moss, Celia ; Haider, Zahra ; Ryan, Gavin ; Holden, Simon ; Harrison, Mike ; Burrows, Nigel ; Jones, Wendy D. ; Loveless, Mary ; Petree, Cassidy ; Stewart, Helen ; Low, Karen ; Donnelly, Deirdre ; Lovell, Simon ; Drosou, Konstantina ; Varshney, Gaurav K.
In Human Genetics and Genomics Advances 13 April 2023 4(2)
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[검색어] Vissers, Lisenka E. L. M.
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