학술논문
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'학술논문'
에서 검색결과 525건 | 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
Aniek L. vanWijngaarden; Tamara T. Koopmann; Claudia A. L. Ruivenkamp; Hoi W. Wu; Nina Ajmone Marsan; Daniela Q. C. M. Barge‐Schaapveld
Clinical Case Reports, Vol 13, Iss 4, Pp n/a-n/a (2025)
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S,Ruivenkamp , C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S,
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
van Slobbe, Michelle; van Haeringen, Arie; Vissers, Lisenka E. L. M.; Bijlsma, Emilia K.; Rutten, Julie W.; Suerink, Manon; Nibbeling, Esther A. R.; Ruivenkamp, Claudia A. L.; Koene, Saskia
European Journal of Pediatrics. :1-11
Academic Journal
Halgren, Christina; Kjaergaard, Susanne; Bak, Mads; Hansen, Claus; El-Schich, Zahra; Anderson, Claire Marie; Henriksen, Karen Friis; Hjalgrim, Helle; Kirchhoff, Maria; Bijlsma, Emilia; Nielsen, Maartje; den Hollander, Nicolette; Ruivenkamp, Claudia; Isidor, Bertrand; Le Caignec, Cédric; Zannolli, Raffaella; Mucciolo, Mafalda; Renieri, Alessandra; Mari, Francesca; Anderlid, Britt-Marie; Andrieux, Joris; Dieux, Anne; Tommerup, Niels; Bache, Iben
Clinical Genetics. 82(3):248-255
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; 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In Genetics in Medicine April 2023 25(4)
Academic Journal
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Abou Jamra, Rami; Oppermann, Henry
The American Journal of Human Genetics. 109:944-952
Academic Journal
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Deciphering Developmental Disorders Study; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Deciphering Developmental Disorders Study 2022, 'Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 750-758. https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109, 4, pp. 750-758
American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Am. J. Hum. Genet. 109, 750-758 (2022)
AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Deciphering Developmental Disorders Study 2022, 'Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 750-758. https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109, 4, pp. 750-758
American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Am. J. Hum. Genet. 109, 750-758 (2022)
Academic Journal
Stolz, Jacob; Foote, Kendall; Veenstra-Knol, Hermine; Pfundt, Rolph; ten Broeke, Sanne; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin; Lawson, John; Lunke, Sebastian; Christodoulou, John; Louie, Raymond; Rogers, R Curtis; Davis, Jessica; Innes, a Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela; Peeters-Scholte, Cacha; Ruivenkamp, Claudia; van Bon, Bregje; Kennedy, Joanna; Low, Karen; Ellard, Sian; Pang, Lewis; Junewick, Joseph; Mark, Paul; Carvill, Gemma; Swanson, Geoffrey
American Journal of Human Genetics, 108, 9, pp. 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D,Ruivenkamp , C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, 'Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709. https://doi.org/10.1016/j.ajhg.2021.07.007
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D,
Academic Journal
Koopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza
European Journal of Human Genetics. 31(1):97-104
Academic Journal
Kushary, Sulagna Tina; Revah-Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, Daniela; Kraus, Alison; Lippa, Natalie C; Mansukhani, Mahesh; McBrian, Danielle; McEntagart, Meriel; Pacio-Míguez, Marta; Palomares-Bralo, María; Pottinger, Carrie; Ruivenkamp, Claudia AL; Sacco, Oliviero; Santen, Gijs WE; Santos-Simarro, Fernando; Scala, Marcello; Short, John; Sørensen, Kristina P; Woods, Christopher G; DDD Study; TUDP Consortium; Anyane Yeboa, Kwame
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp , C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa, K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445
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Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong ; McGaughran, Julie ; Maystadt, Isabelle ; Moortgat, Stephanie ; Graham, John M., Jr. ; van Haeringen, Arie ; Ruivenkamp, Claudia ; Cuperus, Roos ; Vogt, Julie ; Morton, Jenny ; Brasch-Andersen, Charlotte ; Steenhof, Maria ; Hansen, Lars Kjærsgaard ; Adler, Élodie ; Lyonnet, Stanislas ; Pingault, Veronique ; Sandrine, Marlin ; Ziegler, Alban ; Donald, Tyhiesia ; Nelson, Beverly ; Holt, Brandon ; Petryna, Oleksandra ; Firth, Helen ; McWalter, Kirsty ; Zyskind, Jacob ; Telegrafi, Aida ; Juusola, Jane ; Person, Richard ; Bamshad, Michael J. ; Earl, Dawn ; Tsai, Anne Chun-Hui ; Yearwood, Katherine R. ; Marco, Elysa ; Nowak, Catherine ; Douglas, Jessica ; Hakonarson, Hakon ; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 14 July 2022 3(3)
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Genetics in medicine. 23(5):888-899
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Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; 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; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Schouw, Mackenna E.; Ruivenkamp, Claudia A. L.; Koopmann, Tamara T.; Santen, Gijs W. E.; Nikkels, Peter G. J.; van der Tuin, Karin
Publisher: Wiley-Blackwell ISSN: 1552-4825
Academic Journal
Weerts, Marjolein J.A. ; Lanko, Kristina ; Guzmán-Vega, Francisco J. ; Jackson, Adam ; Ramakrishnan, Reshmi ; Cardona-Londoño, Kelly J. ; Peña-Guerra, Karla A. ; van Bever, Yolande ; van Paassen, Barbara W. ; Kievit, Anneke ; van Slegtenhorst, Marjon ; Allen, Nicholas M. ; Kehoe, Caroline M. ; Robinson, Hannah K. ; Pang, Lewis ; Banu, Selina H. ; Zaman, Mashaya ; Efthymiou, Stephanie ; Houlden, Henry ; Järvelä, Irma ; Lauronen, Leena ; Määttä, Tuomo ; Schrauwen, Isabelle ; Leal, Suzanne M. ; Ruivenkamp, Claudia A.L. ; Barge-Schaapveld, Daniela Q.C.M. ; Peeters-Scholte, Cacha M.P.C.D. ; Galehdari, Hamid ; Mazaheri, Neda ; Sisodiya, Sanjay M. ; Harrison, Victoria ; Sun, Angela ; Thies, Jenny ; Pedroza, Luis Alberto ; Lara-Taranchenko, Yana ; Chinn, Ivan K. ; Lupski, James R. ; Garza-Flores, Alexandra ; McGlothlin, Jeffery ; Yang, Lin ; Huang, Shaoping ; Wang, Xiaodong ; Jewett, Tamison ; Rosso, Gretchen ; Lin, Xi ; Mohammed, Shehla ; Merritt, J. Lawrence, II ; Mirzaa, Ghayda M. ; Timms, Andrew E. ; Scheck, Joshua ; Elting, Mariet W. ; Polstra, Abeltje M. ; Schenck, Lauren ; Ruzhnikov, Maura R.Z. ; Vetro, Annalisa ; Montomoli, Martino ; Guerrini, Renzo ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Pastore, Matthew T. ; McBride, Kim L. ; Peng, Jing ; Pan, Zou ; Willemsen, Marjolein ; Koning, Susanne ; Turnpenny, Peter D. ; de Vries, Bert B.A. ; Gilissen, Christian ; Pfundt, Rolph ; Lees, Melissa ; Braddock, Stephen R. ; Klemp, Kara C. ; Vansenne, Fleur ; van Gijn, Marielle E. ; Quindipan, Catherine ; Deardorff, Matthew A. ; Hamm, J. Austin ; Putnam, Abbey M. ; Baud, Rebecca ; Walsh, Laurence ; Lynch, Sally A. ; Baptista, Julia ; Person, Richard E. ; Monaghan, Kristin G. ; Crunk, Amy ; Keller-Ramey, Jennifer ; Reich, Adi ; Elloumi, Houda Zghal ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Haghshenas, Sadegheh ; Maroofian, Reza ; Sadikovic, Bekim ; Banka, Siddharth ; Arold, Stefan T. ; Barakat, Tahsin Stefan
In Genetics in Medicine November 2021 23(11):2122-2137
Academic Journal
Khayat, Michael M. ; Hu, Jianhong ; Jiang, Yunyun ; Li, He ; Chander, Varuna ; Dawood, Moez ; Hansen, Adam W. ; Li, Shoudong ; Friedman, Jennifer ; Cross, Laura ; Bijlsma, Emilia K. ; Ruivenkamp, Claudia A.L. ; Sansbury, Francis H. ; Innis, Jeffrey W. ; Omark O’Shea, Jessica ; Meng, Qingchang ; Rosenfeld, Jill A. ; McWalter, Kirsty ; Wangler, Michael F. ; Lupski, James R. ; Posey, Jennifer E. ; Murdock, David ; Gibbs, Richard A.
In Human Genetics and Genomics Advances 14 October 2021 2(4)
Academic Journal
Weerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-Guerra, Karla A.; van Bever, Yolande; van Paassen, Barbara W.; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M.; Kehoe, Caroline M.; Robinson, Hannah K.; Pang, Lewis; Banu, Selina H.; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Jarvela, Irma; Lauronen, Leena; Maatta, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M.; Ruivenkamp, Claudia A. L.; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M.; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K.; Lupski, James R.; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt; J. Lawrence; Mirzaa, Ghayda M.; Timms, Andrew E.; Scheck, Joshua; Elting, Mariet W.; Polstra, Abeltje M.; Schenck, Lauren; Ruzhnikov, Maura R. Z.; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Pastore, Matthew T.; McBride, Kim L.; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D.; de Vries, Bert B. A.; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R.; Klemp, Kara C.; Vansenne, Fleur; van Gijn, Marielle E.; Quindipan, Catherine; Deardorff, Matthew A.; Hamm, J. Austin; Putnam, Abbey M.; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A.; Baptista, Julia; Person, Richard E.; Monaghan, Kristin G.; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T.; Barakat, Tahsin Stefan
Genet Med
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, 'Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01246-2
Genetics in Medicine
Academic Journal
Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G.; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S.; Vasileiou, Georgia; Reis, Andre; Prince, Bradley; Hickey, Scott E.; Koboldt, Daniel C.; Schneider, Michael C.; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M. Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C.; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B.; Aldinger, Kimberly A.
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