학술논문
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'학술논문'
에서 검색결과 142건 | 목록
1~20
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
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. 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Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE
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Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
European Journal of Human Genetics. 32(2):182-189
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Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; 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; Hoen, Peter A. C.'t; Vissers, Lisenka E. L. 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E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Human Genomics. May 3, 2023, Vol. 17 Issue 1
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Villoutreix, Bruno O.; Laconde, Guillaume; Lagorce, David; Martineau, Pierre; Miteva, Maria A.; Dariavach, Piona
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Benali-Furet, Naoual L.; Chami, Mounia; Houel, Ludivine; de Giorgi, Francesca; Vernejoul, Fabienne; Lagorce, David; Buscail, Louis; Bartenschlager, Ralf; Ichas, François; Rizzuto, Rosario; Paterlini-Bréchot, Patrizia
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Paterlini-Brechot, Patrizia; Saigo, Kenichi; Murakami, Yoshiki; Chami, Mounia; Gozuacik, Devrim; Mugnier, Claude; Lagorce, David; Brechot, Christian
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Gozuacik, Devrim; Murakami, Yoshiki; Saigo, Kenichi; Chami, Mounia; Mugnier, Claude; Lagorce, David; Okanoue, Takeshi; Urashima, Tetsuro; Bréchot, Christian; Paterlini-Bréchot, Patrizia
Editorial & Opinion
In Drug Discovery Today August 2017 22(8):1131-1133
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Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Matentzoglu N; Semanticly, Athens, Greece.; Coleman B; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Addo-Lartey EB; Rare Disease Ghana Initiative, Accra, Ghana.; Anagnostopoulos AV; The Jackson Laboratory, Bar Harbor, ME, USA.; Anderton J; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Avillach P; Harvard Medical School, Boston, MA, USA.; Bagley AM; Shriners Children's Northern California, Sacramento, CA, USA.; Bakštein E; National Institute of Mental Health, Klecany, Czech Republic.; Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA.; Baynam G; Rare Care Centre, Perth Children's Hospital, Perth, Australia.; Bello SM; The Jackson Laboratory, Bar Harbor, ME, USA.; Berk M; Deakin University, IMPACT - the Institute for Mental and Physical Health and Clinical Translation, School of Medicine, Barwon Health, Geelong, Australia.; Bertram H; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; Bishop S; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA.; Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Bodenstein DF; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada.; Botas P; Nostos Genomics GmbH, Berlin, Germany.; Boztug K; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.; Čady J; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.; Callahan TJ; Department of Biomedical Informatics, Columbia University Irving Medical Center, NY, NY, USA.; Cameron R; Simon Fraser University, Burnaby, BC, Canada.; Carbon SJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Castellanos F; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Caufield JH; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Chan LE; College of Public Health and Human Sciences, Oregon State University, Corvallis, OR 97331, USA.; Chute CG; Schools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD 21287, USA.; Cruz-Rojo J; UDISGEN (Dysmorphology and Genetics Unit), 12 de Octubre Hospital, Madrid, Spain.; Dahan-Oliel N; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Quebec, Canada.; Davids JR; Shriners Children's Northern California, Sacramento, CA, USA.; de Dieuleveult M; Département I&D, AP-HP, Banque Nationale de Données Maladies Rares, Paris, France.; de Souza V; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; de Vries E; Tranzo, TSB, Tilburg University, Netherlands.; DePaulo JR; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Derfalvi B; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.; Dhombres F; Fetal Medicine Department, Armand Trousseau Hospital, Sorbonne University, GRC26, INSERM, Limics, Paris, France.; Diaz-Byrd C; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Donadille B; St Antoine Hospital, Reference Center for Rare Growth Endocrine Disorders, Sorbonne University, AP-HP, INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Duyzend M; Massachusetts General Hospital, Boston, MA, USA.; Elfeky R; Department of Immunology, GOS Hospital for Children NHS Foundation Trust, University College London, London, UK.; Essaid S; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Fabrizzi C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Fico G; Bipolar and Depressive Disorders Unit, Institute of Neuroscience, Hospital Clinic, University of Barcelona, IDIBAPS, CIBERSAM, Barcelona, Catalonia, Spain.; Firth HV; Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; Freudenberg-Hua Y; Department of Psychiatry, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.; Fullerton JM; Neuroscience Research Australia, Sydney, NSW, Australia.; Gabriel DL; School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.; Gilmour K; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK.; Giordano J; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.; Goes FS; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Moses RG; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.; Green I; SNOMED International, London W2 6BD, UK.; Griese M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.; Groza T; Rare Care Centre, Perth Children's Hospital, Perth, Australia.; Gu W; Chinese HPO Consortium, Beijing, China.; Guthrie J; Department of Structural and Computational Biology, University of Vienna; Max Perutz Labs, Vienna, Austria.; Gyori B; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.; Hamosh A; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Hanauer M; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Hanušová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.; He YO; University of Michigan Medical School, Ann Arbor, MI, USA.; Hegde H; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Helbig I; Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Holasová K; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.; Hoyt CT; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.; Huang S; Chinese HPO Consortium, Beijing, China.; Hurwitz E; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK.; Jiang X; Chinese HPO Consortium, Beijing, China.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.; Keramatian K; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada.; King B; Department of Psychiatry and Behavioral Sciences, UCSF Weil Institute for Neuroscience, San Francisco, CA, USA.; Knoflach K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Kraus ML; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Kroll C; William Harvey Research Institute, Queen Mary University of London, London, UK.; Kusters M; Immunology, NIHR Great Ormond Street Hospital BRC, London, UK.; Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany.; Lagorce D; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Lai MC; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.; Laraway B; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Lewis-Smith D; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK.; Li X; Chinese HPO Consortium, Beijing, China.; Lucano C; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Majd M; Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Marazita ML; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; Martinez-Glez V; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Sabadell, Spain.; McHenry TH; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA.; McInnis MG; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Mihulová M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Millett CE; Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, USA.; Mitchell PB; Discipline of Psychiatry & Mental Health, School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, NSW, Australia.; Moslerová V; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Narutomi K; Okinawa Prefectural Nanbu Medical Center & Children's Medical Center.; Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Quebec, Canada.; Nevado J; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.; Nierenberg AA; Dauten Family Center for Bipolar Treatment Innovation, Massachusetts General Hospital, Boston, MA, USA.; Čajbiková NN; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Nurnberger JI Jr; Stark Neurosciences Research Institute, Departments of Psychiatry and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.; Ogishima S; INGEM/ToMMo, Tohoku University, Sendai, Japan.; Olson D; Data Collaboration Center, Data Science, Critical Path Institute, Tucson, AZ, USA.; Ortiz A; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Pachajoa H; Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.; Perez de Nanclares G; Molecular (epi) genetics lab, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.; Peters A; Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.; Putman T; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Rapp CK; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, German center for Lung research (DZL), Munich, Germany.; Rath A; INSERM, US14 - Orphanet, Plateforme Maladies Rares, Paris, France.; Reese J; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Rekerle L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Roberts AM; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK.; Roy S; SNOMED International, London W2 6BD, UK.; Sanders SJ; Department of Paediatrics, Institute of Developmental and Regenerative Medicine, University of Oxford, Oxford, UK.; Schuetz C; Universitätsklinikum Carl Gustav Carus, Medizinische Fakultät, TU, Dresden, Germany.; Schulte EC; Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital, LMU Munich, Munich, Germany.; Schulze TG; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, USA.; Schwarz M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Scott K; Department of Psychiatry, Dalhousie University, Halifax, NS, Canada.; Seelow D; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany.; Seitz B; Department of Ophthalmology, Saarland University Medical Center UKS, Homburg/Saar, Germany.; Shen Y; Chinese HPO Consortium, Beijing, China.; Similuk MN; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.; Simon ES; Eisenberg Family Depression Center, University of Michigan, Ann Arbor, MI, USA.; Singh B; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.; Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Smith CL; The Jackson Laboratory, Bar Harbor, ME, USA.; Smolinsky JT; Human Genetics Institute of New Jersey, Rutgers University, Piscataway, NJ, USA.; Sperry S; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; Stafford E; The National Alliance on Mental Illness, Arlington, VA, USA.; Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton CB10 1SD, UK.; Steinhaus R; Exploratory Diagnostic Sciences, Berliner Institut für Gesundheitsforschung - Charité, Berlin, Germany.; Strawbridge R; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Talapova P; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA.; Tenorio Castano JA; Institute of Medical and Molecular Genetics, Hospital Univ. La Paz, Madrid, Spain.; Tesner P; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Thomas RH; Translational and Clinical Research Institute, Henry Wellcome Building, Framlington Place, Newcastle University, Newcastle-Upon-Tyne NE14LP, UK.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.; Turnovec M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; van Gijn ME; Department of Genetics, University Medical Center Groningen, Groningen, Netherlands.; Vasilevsky NA; Critical Path Institute, Tucson, AZ, USA.; Vlčková M; Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic.; Walden A; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Wang K; Chinese HPO Consortium, Beijing, China.; Wapner R; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, USA.; Ware JS; National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London W12 0HS, UK.; Wiafe AA; Rare Disease Ghana Initiative, Accra, Ghana.; Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana.; Wiggins LD; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.; Williams AE; Institute for Research and Health Policy Studies, Tufts Medicine, Boston, MA 2111, USA.; Wu C; Chinese HPO Consortium, Beijing, China.; Wyrwoll MJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, Institute for Stem Cell Research, University of Edinburgh, Edinburgh, UK.; Xiong H; Chinese HPO Consortium, Beijing, China.; Yalin N; Department of Psychological Medicine, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Yamamoto Y; Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Japan.; Yatham LN; Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada.; Yocum AK; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; Young AH; Psychological Medicine, Institute of Psychiatry, Psychology and Neuroscience, King's College London & South London and Maudsley NHS Foundation Trust, Bethlem Royal Hospital, Monks Orchard Road, Beckenham, Kent, London SE5 8AF, UK.; Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.; Zandi PP; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.; Zankl A; Faculty of Medicine and Health, The University of Sydney, Camperdown, Australia.; Zarante I; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogotá, Colombia.; Zvolský M; Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic.; Toro S; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Carmody LC; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.; Köhler S; Ada Health GmbH, Berlin, Germany.; Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE
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
Birte Zurek; Kornelia Ellwanger; Lisenka E. L. M. Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M. de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A. C. ’t Hoen; Antonio Vitobello; Julia M. Schulze-Hentrich; Olaf Riess; Han G. Brunner; Anthony J. Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Holm Graessner; Tobias B. Haack; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Ivo Glynne Gut; Davide Piscia; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Virginie Bros-Facer; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
Eur J Hum Genet
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
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
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