학술논문
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'학술논문'
에서 검색결과 1,340건 | 목록
1~20
Academic Journal
Di Donato, Nataliya ; Thom, Andrew ; Rump, Andreas ; Greve, Johannes N. ; Cadiñanos, Juan ; Calabrò, Rocco Salvatore ; Cathey, Sara ; Chung, Brian ; Cope, Heidi ; Costales, Maria ; Cuvertino, Sara ; Dinkel, Philine ; Erripi, Kalliopi ; Fry, Andrew E. ; Garavelli, Livia ; Hoffjan, Sabine ; Janzarik, Wibke G. ; Kreimer, Insa ; Mancini, Grazia ; Marin-Reina, Purificacion ; Meinhardt, Andrea ; Niehaus, Indra ; Pilz, Daniela ; Ricca, Ivana ; Simarro, Fernando Santos ; Schrock, Evelin ; Marquardt, Anja ; Taft, Manuel H. ; Tezcan, Kamer ; Thunström, Sofia ; Verhagen, Judith ; Verloes, Alain ; Wollnik, Bernd ; Krawitz, Peter ; Hsieh, Tzung-Chien ; Seifert, Michael ; Heide, Michael ; Lawrence, Catherine B. ; Roberts, Neil A. ; Manstein, Dietmar J. ; Woolf, Adrian S. ; Banka, Siddharth
In The American Journal of Human Genetics 5 February 2026 113(2):324-341
Academic Journal
Anderson, Eric N. ; Drukewitz, Stephan ; Kour, Sukhleen ; Chimata, Anuradha V. ; Rajan, Deepa S. ; Schönnagel, Senta ; Stals, Karen L. ; Donnelly, Deirdre ; O'Sullivan, Siobhan ; Mantovani, John F. ; Tan, Tiong Y. ; Stark, Zornitza ; Zacher, Pia ; Chatron, Nicolas ; Monin, Pauline ; Drunat, Severine ; Vial, Yoann ; Latypova, Xenia ; Levy, Jonathan ; Verloes, Alain ; Carter, Jennefer N. ; Bonner, Devon E. ; Shankar, Suma P. ; Bernstein, Jonathan A. ; Cohen, Julie S. ; Comi, Anne ; Carere, Deanna Alexis ; Dyer, Lisa M. ; Mullegama, Sureni V. ; Sanchez-Lara, Pedro A. ; Grand, Katheryn ; Kim, Hyung-Goo ; Ben-Mahmoud, Afif ; Gospe, Sidney M., Jr. ; Belles, Rebecca S. ; Bellus, Gary ; Lichtenbelt, Klaske D. ; Oegema, Renske ; Rauch, Anita ; Ivanovski, Ivan ; Mau-Them, Frederic Tran ; Garde, Aurore ; Rabin, Rachel ; Pappas, John ; Bley, Annette E. ; Bredow, Janna ; Wagner, Timo ; Decker, Eva ; Bergmann, Carsten ; Domenach, Louis ; Margot, Henri ; Lemke, Johannes R. ; Abou Jamra, Rami ; Hentschel, Julia ; Mefford, Heather ; Singh, Amit ; Pandey, Udai Bhan ; Platzer, Konrad
In The American Journal of Human Genetics 8 January 2026 113(1):100-116
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
Adams, David R. ; van Karnebeek, Clara D.M. ; Agulló, Sergi Beltran ; Faùndes, Víctor ; Jamuar, Saumya Shekhar ; Lynch, Sally Ann ; Pintos-Morell, Guillem ; Puri, Ratna Dua ; Shai, Ruty ; Steward, Charles A. ; Tumiene, Biruté ; Verloes, Alain
In European Journal of Medical Genetics August 2024 70
Academic Journal
Morison, Lottie D. ; Van Reyk, Olivia ; Baker, Emma ; Ruaud, Lyse ; Couque, Nathalie ; Verloes, Alain ; Amor, David J. ; Morgan, Angela T.
In European Journal of Medical Genetics April 2024 68
Academic Journal
Papadopoulos, Thalia ; Gaignard, Pauline ; Schiff, Manuel ; Rio, Marlène ; Karall, Daniela ; Legendre, Adrien ; Verloes, Alain ; Ruaud, Lyse
In European Journal of Medical Genetics February 2024 67
Academic Journal
Sabbagh, Quentin ; Haghshenas, Sadegheh ; Piard, Juliette ; Trouvé, Chloé ; Amiel, Jeanne ; Attié-Bitach, Tania ; Balci, Tugce ; Barat-Houari, Mouna ; Belonis, Alyce ; Boute, Odile ; Brightman, Diana S. ; Bruel, Ange-Line ; Caraffi, Stefano Giuseppe ; Chatron, Nicolas ; Collet, Corinne ; Dufour, William ; Edery, Patrick ; Fong, Chin-To ; Fusco, Carlo ; Gatinois, Vincent ; Gouy, Evan ; Guerrot, Anne-Marie ; Heide, Solveig ; Joshi, Aakash ; Karp, Natalya ; Keren, Boris ; Lesieur-Sebellin, Marion ; Levy, Jonathan ; Levy, Michael A. ; Lozano, Claire ; Lyonnet, Stanislas ; Margot, Henri ; Marzin, Pauline ; McConkey, Haley ; Michaud, Vincent ; Nicolas, Gaël ; Nizard, Mevyn ; Paulet, Alix ; Peluso, Francesca ; Pernin, Vincent ; Perrin, Laurence ; Philippe, Christophe ; Prasad, Chitra ; Prasad, Madhavi ; Relator, Raissa ; Rio, Marlène ; Rondeau, Sophie ; Ruault, Valentin ; Ruiz-Pallares, Nathalie ; Sanchez, Elodie ; Shears, Debbie ; Siu, Victoria Mok ; Sorlin, Arthur ; Tedder, Matthew ; Tharreau, Mylène ; Mau-Them, Frédéric Tran ; van der Laan, Liselot ; Van Gils, Julien ; Verloes, Alain ; Whalen, Sandra ; Willems, Marjolaine ; Yauy, Kévin ; Zuntini, Roberta ; Kerkhof, Jennifer ; Sadikovic, Bekim ; Geneviève, David
In Genetics in Medicine January 2024 26(1)
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)
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; 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 Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn ; López-Martín, Estrella ; Macek, Milan ; Mencarelli, Maria Antonietta ; Moutton, Sébastien ; Pfundt, Rolph ; Safraou, Hana ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Tran Mau-Them, Frédéric ; de Vries, Bert B.A. ; Willemsen, Marjolein H. ; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Bremond-Gignac, Dominique ; Borderie, Vincent ; Bourges, Jean-Louis ; Calvas, Patrick ; Chiambaretta, Frédéric ; Copin, Henri ; Daien, Vincent ; Labbé, Antoine ; Le Bail, Béatrice ; Mortemousque, Bruno ; Robert, Matthieu ; Rozet, Jean-Michel ; Sauer, Arnaud ; Valleix, Sophie ; Aberdam, Daniel ; Abitbol, Marc ; Aidan, Nathalie ; Audo, Isabelle ; Bahi-Buisson, Nadia ; Barbieri, Emmanuelle ; Basille, Fernand ; Bouet, Aurélie ; Bruere, Lénaïc ; Bursztyn, Joseph ; Cochener-Lamard, Béatrice ; Daruich-Matet, Alejandra ; Denis, Danièle ; Denis, Philippe ; De Vergnes, Nathalie ; El Maftouhi, Adil ; Forbeaux Glize, Audrey ; Gabison, Eric ; Grundeler, Jean Philippe ; Hoffart, Louis ; Igla, Sophie ; Jouanjan, Gaëlle ; Laumonier Demory, Elsa ; Leroy, Camille ; Le Meur, Guylène ; Mincheva, Zoia ; Plat, Elisabeth ; Rigal-Sastourne, Charlotte ; Romana, Serge ; Rousseau, Antoine ; Salomon, Rémi ; Steffann, Julie ; Touitou, Valérie ; Verloes, Alain ; Bremond-Gignac, D. ; Robert, M. ; Daruich, A. ; Borderie, V. ; Chiambaretta, F. ; Valleix, S.
In Journal Français d'Ophtalmologie June 2022 45(6):647-652
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Edouard, Thomas ; Zenker, Martin ; Östman-Smith, Ingegerd ; Ortega Castelló, Eduardo ; Wolf, Cordula M. ; Burkitt-Wright, Emma ; Verloes, Alain ; García-Miñaúr, Sixto ; Tartaglia, Marco ; Shaikh, Guftar ; Lebl, Jan
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Boer, Elke de ; Cohen, Enzo ; Cuesta, Isabel ; Danis, Daniel ; Denommé-Pichon, Anne-Sophie ; Gao, Fei ; Gilissen, Christian ; Horvath, Rita ; Johari, Mridul ; Johanson, Lennart ; Li, Shuang ; Matalonga, Leslie ; Morsy, Heba ; Nelson, Isabelle ; Paramonov, Ida ; Paske, Iris B.A.W. te ; Robinson, Peter ; Savarese, Marco ; Steyaert, Wouter ; Töpf, Ana ; Trimouille, Aurélien ; van der Velde, Joeri K. ; Vandrovcova, Jana ; Vitobello, Antonio ; Zurek, Birte ; Abbot, Kristin M. ; Banka, Siddharth ; Benetti, Elisa ; de Boer, Elke ; 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 ; Kerstjens, Mieke ; Kleefstra, Tjitske ; Lindstrand, Anna ; Martín, Estrella López ; Macek, Milan, Jr. ; Maystadt, Isabelle ; Morleo, Manuela ; Nigro, Vicenzo ; Nordgren, Ann ; Pettersson, Maria ; Pinelli, Michele ; Pizzi, Simone ; Posada, Manuel ; Radio, Francesca C. ; Renieri, Alessandra ; Rooryck, Caroline ; Ryba, Lukas ; Santen, Gijs W.E. ; Schwarz, Martin ; Tartaglia, Marco ; Thauvin, Christel ; Torella, Annalaura ; Verloes, Alain ; Vissers, Lisenka ; Votypka, Pavel ; Vyshka, Klea ; Zguro, Kristina ; Yaldiz, Burcu ; Laurie, Steve ; de Reuver, Rick ; Kwint, Michael ; Pfundt, Rolph ; Willemsen, Michèl A.A.P. ; Vries, Bert B.A. de ; Vitobello, A. ; Vissers, Lisenka E.L.M.
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Wolf, Cordula M. ; Zenker, Martin ; Burkitt-Wright, Emma ; Edouard, Thomas ; García-Miñaúr, Sixto ; Lebl, Jan ; Shaikh, Guftar ; Tartaglia, Marco ; Verloes, Alain ; Östman-Smith, Ingegerd
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
García-Miñaúr, Sixto ; Burkitt-Wright, Emma ; Verloes, Alain ; Shaikh, Guftar ; Lebl, Jan ; Östman-Smith, Ingegerd ; Wolf, Cordula M. ; Ortega Castelló, Eduardo ; Tartaglia, Marco ; Zenker, Martin ; Edouard, Thomas
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Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; G, de La Villeon; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Geneviève, David; Cavé, Hélène; Willems, Marjolaine
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Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire ; Roubertie, Agathe ; Ollagnon, Elizabeth ; Choumert, Ariane ; Fluchère, Frédérique ; Magne, Fabienne Ory ; Halleb, Yosra ; Renaud, Mathilde ; Larrieu, Lise ; Baux, David ; Patat, Olivier ; Bousquet, Idriss ; Ravel, Jean-Marie ; Cuntz-Shadfar, Danielle ; Sarret, Catherine ; Ayrignac, Xavier ; Rolland, Anne ; Morales, Raoul ; Pointaux, Morgane ; Lieutard-Haag, Cathy ; Laurens, Brice ; Tillikete, Caroline ; Bernard, Emilien ; Mallaret, Martial ; Carra-Dallière, Clarisse ; Tranchant, Christine ; Meyer, Pierre ; Damaj, Lena ; Pasquier, Laurent ; Acquaviva, Cecile ; Chaussenot, Annabelle ; Isidor, Bertrand ; Nguyen, Karine ; Camu, William ; Eusebio, Alexandre ; Carrière, Nicolas ; Riquet, Audrey ; Thouvenot, Eric ; Gonzales, Victoria ; Carme, Emilie ; Attarian, Shahram ; Odent, Sylvie ; Castrioto, Anna ; Ewenczyk, Claire ; Charles, Perrine ; Kremer, Laurent ; Sissaoui, Samira ; Bahi-buisson, Nadia ; Kaphan, Elsa ; Degardin, Adrian ; Doray, Bérénice ; Julia, Sophie ; Remerand, Ganaëlle ; Fraix, Valerie ; Haidar, Lydia Abou ; Lazaro, Leila ; Laugel, Vincent ; Villega, Frederic ; Charlin, Cyril ; Frismand, Solène ; Moreira, Marinha Costa ; Witjas, Tatiana ; Francannet, Christine ; Walther-Louvier, Ulrike ; Fradin, Mélanie ; Chabrol, Brigitte ; Fluss, Joel ; Bieth, Eric ; Castelnovo, Giovanni ; Vergnet, Sylvain ; Meunier, Isabelle ; Verloes, Alain ; Brischoux-Boucher, Elise ; Coubes, Christine ; Geneviève, David ; Lebouc, Nicolas ; Azulay, Jean Phillipe ; Anheim, Mathieu ; Goizet, Cyril ; Rivier, François ; Labauge, Pierre ; Calvas, Patrick ; Koenig, Michel
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Roux-Levy, Pierre-Henri ; Sanlaville, Damien ; De Freminville, Bénédicte ; Touraine, Renaud ; Masurel, Alice ; Gueneau, Isabelle ; Cotinaud-Ricou, Audrey ; Chancenotte, Sophie ; Debomy, Frédérique ; Minot, Delphine ; Bournez, Marie ; Rousseau, Isabelle ; Daniel, Sandrine ; Gautier, Elodie ; Lacombe, Didier ; Taupiac, Emmanuelle ; Odent, Sylvie ; Mikaty, Myriam ; Manouvrier, Sylvie ; Ghoumid, Jamal ; Geneviève, David ; Lehman, Natacha ; Busa, Tiffany ; Edery, Charles-Patrick ; Cornaton, Jenny ; Gallard, Jennifer ; Héron, Delphine ; Rastel, Coralie ; Thauvin-Robinet, Christel ; Verloes, Alain ; Binquet, Christine ; Faivre, Laurence ; Lejeune, Catherine
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Academic Journal
Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen E. ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave A. ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine S. ; Hajianpour, M.J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; McDermott, John Henry ; McWalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian M. ; Russo, Martina ; Sadleir, Lynette G. ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; Van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
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Academic Journal
Roux-Levy, Pierre-Henri ; Bournez, Marie ; Masurel, Alice ; Jean, Nolwenn ; Chancenotte, Sophie ; Bordes, Mathieu ; Debomy, Frédérique ; Minot, Delphine ; Schmitt, Emilie ; Vinault, Sandrine ; Gautier, Elodie ; Lacombe, Didier ; Odent, Sylvie ; Mikaty, Myriam ; Manouvrier, Sylvie ; Ghoumid, Jamal ; Geneviève, David ; Lehman, Natacha ; Philip, Nicole ; Edery, Patrick ; Cornaton, Jenny ; Gallard, Jennifer ; Héron, Delphine ; Rastel, Coralie ; Huet, Frédéric ; Thauvin-Robinet, Christel ; Verloes, Alain ; Binquet, Christine ; Tauber, Maïté ; Lejeune, Catherine ; Faivre, Laurence
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Academic Journal
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