학술논문
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'학술논문'
에서 검색결과 165건 | 목록
1~20
Academic Journal
Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony
American Journal of Human Genetics. 112(5)
Academic Journal
Talarico, Mariagrazia ; de Bellescize, Julitta ; De Wachter, Matthias ; Le Guillou, Xavier ; Le Meur, Guylène ; Egloff, Matthieu ; Isidor, Bertrand ; Cogné, Benjamin ; Beysen, Diane ; Rollier, Paul ; Fradin, Melanie ; Pasquier, Laurent ; Guella, Ilaria ; Hickey, Scott E. ; Benke, Paul J. ; Shillington, Amelle ; Kumps, Candy ; Vanakker, Olivier ; Gerkes, Erica H. ; Lakhani, Shenela ; Romanova, Irina ; Kanivets, Ilya ; Brugger, Melanie ; Vill, Katharina ; Caylor, Raymond C. ; Skinner, Cindy ; Tinker, Rory J. ; Stödberg, Tommy ; Nümann, Astrid ; Haack, Tobias B. ; Deininger, Natalie ; Hengel, Holger ; Jury, Jeanne ; Conrad, Solène ; Mercier, Sandra ; Yoon, Grace ; Tsuboyama, Melissa ; Barcia, Giulia ; Gitiaux, Cyril ; Rio, Marlène ; Bevot, Andrea ; Redon, Sylvia ; Uguen, Kevin ; Wonneberger, Antje ; Schulz, Alexander ; Timmann, Dagmar ; Karlowicz, Danielle Hays ; Chatron, Nicolas ; Carnevale, Amanda ; Mahida, Sonal ; Õunap, Katrin ; Kury, Sébastien ; Cabet, Sara ; Lesca, Gaetan
In Genetics in Medicine April 2025 27(4)
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
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
Stephanie Efthymiou; Cailyn P Leo; Chenghong Deng; Kejia Zhang; Sheng-Jia Lin; Reza Maroofian; Rauan Kaiyrzhanov; Renee Lin; Irem Karagoz; Annarita Scardamaglia; Daniel Owrang; Valentina Turchetti; Friederike Jahnke; Cassidy Petree; Anna V Derrick; Mark I Rees; Javeria Raza Alvi; Tipu Sultan; Chumei Li; Marie-Line Jacquemont; Frederic Tran-Mau-Them; Maria Valenzuela-Palafoll; Rich Sidlow; Grace Yoon; Michelle Morrow; Alexis Carere; Mary O’Connor; Julie Fleischer; Erica H Gerkes; Chanika Phornphutkul; Bertrand Isidor; Clotilde Rivier-Ringenbach; Christophe Philippe; Semra H Kurul; Didem Soydemir; Bulent Kara; Deniz Sunnetci-Akkoyunlu; Viktoria Bothe; Konrad Platzer; Dagmar Wieczorek; Margarete Koch-Hogrebe; Nils Rahner; Ann-Charlotte Thuresson; Hans Matsson; Carina Frykholm; Sevcan Tuğ Bozdoğan; Atıl Bişgin; Nicolas Chatron; Gaetan Lesca; Sara Cabet; Zeynep Tümer; Tina D Hjortshøj; Gitte Rønde; Thorsten Marquardt; Janine Reunert; Erum Afzal; Mina Zamani; Reza Azizimalamiri; Hamid Galehdari; Pardis Nourbakhshd; Niloofar Chamanrou; Seo-Kyung Chung; Mohnish Suri; Paul J Benke; Maha S Zaki; Joseph G Gleeson; Daniel G Calame; Davut Pehlivan; Halil I Yilmaz; Alper Gezdirici; Aboulfazl Rad; Iman Sabri Abumansour; Gabriela Oprea; Jai Sidpra; Kshitij Mankad; Barbara Vona; Andrew E Fry; Gaurav K Varshney; Henry Houlden; Dragony Fu
Academic Journal
Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh ; Relator, Raissa ; Levy, Michael A. ; Kerkhof, Jennifer ; McConkey, Haley ; Brooks, Alice ; Zonneveld-Huijssoon, Evelien ; Gerkes, Erica H. ; Tedder, Matthew L. ; Vissers, Lisenka ; Salzano, Emanuela ; Piccione, Maria ; Asaftei, Sebastian Dorin ; Carli, Diana ; Mussa, Alessandro ; Shukarova-Angelovska, Elena ; Trajkova, Slavica ; Brusco, Alfredo ; Merla, Giuseppe ; Alders, Marielle M. ; Bouman, Arjan ; Sadikovic, Bekim
In Genetics in Medicine March 2024 26(3)
Academic Journal
Silvestre Cuinat; Mathilde Nizon; Bertrand Isidor; Alexander Stegmann; Richard H. van Jaarsveld; Koen L. van Gassen; Jasper J. van der Smagt; Catharina M.L. Volker-Touw; Sjoerd J.B. Holwerda; Paulien A. Terhal; Sarah Schuhmann; Georgia Vasileiou; Mohamed Khalifa; Alaa A. Nugud; Hemad Yasaei; Lilian Bomme Ousager; Charlotte Brasch-Andersen; Wallid Deb; Thomas Besnard; Marleen E.H. Simon; Karin Huijsdens-van Amsterdam; Nienke E. Verbeek; Dena Matalon; Natalie Dykzeul; Shana White; Elizabeth Spiteri; Koen Devriendt; Anneleen Boogaerts; Marjolein Willemsen; Han G. Brunner; Margje Sinnema; Bert B.A. De Vries; Erica H. Gerkes; Rolph Pfundt; Kosuke Izumi; Ian D. Krantz; Zhou L. Xu; Jill R. Murrell; Irene Valenzuela; Ivon Cusco; Eulàlia Rovira-Moreno; Yaping Yang; Varoona Bizaoui; Olivier Patat; Laurence Faivre; Frederic Tran-Mau-Them; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Christophe Philippe; Stéphane Bezieau; Benjamin Cogné
Genetics in Medicine, 24, 8, pp. 1774-1780
Academic Journal
Nancy Vegas; Zeynep Demir; Christopher T. Gordon; Sylvain Breton; Vanessa L. Romanelli Tavares; Hugo Moisset; Roseli Zechi‐Ceide; Nancy M. Kokitsu‐Nakata; Yasuhiro Kido; Sandrine Marlin; Souad Gherbi Halem; Ilse Meerschaut; Bert Callewaert; Brian Chung; Nicole Revencu; Daphné Lehalle; Florence Petit; Evan J. Propst; Blake C. Papsin; John H. Phillips; Linda Jakobsen; Pauline Le Tanno; Julien Thévenon; Julie McGaughran; Erica H. Gerkes; Chiara Leoni; Peter Kroisel; Tiong Y. Tan; Alex Henderson; Paulien Terhal; Lina Basel‐Salmon; Adila Alkindy; Susan M. White; Maria R. Passos‐Bueno; Véronique Pingault; Loïc De Pontual; Jeanne Amiel
Human mutation, Vol. 43, no. 5, p. 582-594 (2022)
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset,H , Zechi-Ceide, R, Kokitsu-Nakata, N M, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, E J, Papsin, B C, Phillips, J H , Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes , E H , Leoni, C, Kroisel, P, Tan, T Y, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, S M, Passos-Bueno, M R, Pingault, V, De Pontual, L & Amiel, J 2022, ' Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases ', Human Mutation, vol. 43, no. 5, pp. 582-594 . https://doi.org/10.1002/humu.24349
HUMAN MUTATION
Vegas, N, Demir, Z, Gordon, C T, Breton, S, Romanelli Tavares, V L, Moisset,
HUMAN MUTATION
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Jung-Hyun Kim; Zahide Alaçam; Laurence Faivre; Kathleen M. Collins; Erica H. Gerkes; Mieke van Haelst; Ingrid M. B. H. van de Laar; Kristin Lindstrom; Mathilde Nizon; James Pauling; Edyta Heropolitańska-Pliszka; Astrid S. Plomp; Caroline Racine; Rani Sachdev; Margje Sinnema; Jon Skranes; Hermine E. Veenstra-Knol; Eline A. Verberne; Anneke T. Vulto-van Silfhout; Marlon E. F. Wilsterman; Eun-Young Erin Ahn; Bert B. A. de Vries; Lisenka E. L. M. Vissers
Dingemans, A J M, Truijen, K M G, Kim, J-H , Alaçam, Z, Faivre, L, Collins, K M, Gerkes , E H , van Haelst, M, van de Laar, I M B H , Lindstrom, K, Nizon, M, Pauling, J, Heropolitańska-Pliszka, E, Plomp, A S, Racine, C, Sachdev, R, Sinnema, M, Skranes, J, Veenstra-Knol, H E, Verberne, E A, Vulto-van Silfhout, A T, Wilsterman, M E F, Ahn, E-Y E, de Vries, B B A & Vissers, L E L M 2021, 'Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON', European Journal of Human Genetics. https://doi.org/10.1038/s41431-021-00960-4
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
European Journal of Human Genetics, 30, 3, pp. 271-281
European Journal of Human Genetics
Academic Journal
Alexander J. M. Dingemans; Kim M. G. Truijen; Sam van de Ven; Raphael Bernier; Ernie M. H. F. Bongers; Arjan Bouman; Laura de Graaff – Herder; Evan E. Eichler; Erica H. Gerkes; Christa M. De Geus; Johanna M. van Hagen; Philip R. Jansen; Jennifer Kerkhof; Anneke J. A. Kievit; Tjitske Kleefstra; Saskia M. Maas; Stella A. de Man; Haley McConkey; Wesley G. Patterson; Amy T. Dobson; Eloise J. Prijoles; Bekim Sadikovic; Raissa Relator; Roger E. Stevenson; Connie T. R. M. Stumpel; Malou Heijligers; Kyra E. Stuurman; Katharina Löhner; Shimriet Zeidler; Jennifer A. Lee; Amanda Lindy; Fanggeng Zou; Matthew L. Tedder; Lisenka E. L. M. Vissers; Bert B. A. de Vries
Translational Psychiatry, Vol 12, Iss 1, Pp 1-11 (2022)
Academic Journal
van der Sluijs, Pleuntje J. ; Joosten, Marieke ; Alby, Caroline ; Attié-Bitach, Tania ; Gilmore, Kelly ; Dubourg, Christele ; Fradin, Mélanie ; Wang, Tianyun ; Kurtz-Nelson, Evangeline C. ; Ahlers, Kaitlyn P. ; Arts, Peer ; Barnett, Christopher P. ; Ashfaq, Myla ; Baban, Anwar ; van den Born, Myrthe ; Borrie, Sarah ; Busa, Tiffany ; Byrne, Alicia ; Carriero, Miriam ; Cesario, Claudia ; Chong, Karen ; Cueto-González, Anna Maria ; Dempsey, Jennifer C. ; Diderich, Karin E.M. ; Doherty, Dan ; Farholt, Stense ; Gerkes, Erica H. ; Gorokhova, Svetlana ; Govaerts, Lutgarde C.P. ; Gregersen, Pernille A. ; Hickey, Scott E. ; Lefebvre, Mathilde ; Mari, Francesca ; Martinovic, Jelena ; Northrup, Hope ; O’Leary, Melanie ; Parbhoo, Kareesma ; Patrier, Sophie ; Popp, Bernt ; Santos-Simarro, Fernando ; Stoltenburg, Corinna ; Thauvin-Robinet, Christel ; Thompson, Elisabeth ; Vulto-van Silfhout, Anneke T. ; Zahir, Farah R. ; Scott, Hamish S. ; Earl, Rachel K. ; Eichler, Evan E. ; Vora, Neeta L. ; Wilnai, Yael ; Giordano, Jessica L. ; Wapner, Ronald J. ; Rosenfeld, Jill A. ; Haak, Monique C. ; Santen, Gijs W.E.
In Genetics in Medicine August 2022 24(8):1753-1760
Academic Journal
Charlotte Gehin; Museer A. Lone; Winston Lee; Laura Capolupo; Sylvia Ho; Adekemi M. Adeyemi; Erica H. Gerkes; Alexander P.A. Stegmann; Estrella López-Martín; Eva Bermejo-Sánchez; Beatriz Martínez-Delgado; Christiane Zweier; Cornelia Kraus; Bernt Popp; Vincent Strehlow; Daniel Gräfe; Ina Knerr; Eppie R. Jones; Stefano Zamuner; Luciano A. Abriata; Vidya Kunnathully; Brandon E. Moeller; Anthony Vocat; Samuel Rommelaere; Jean-Philippe Bocquete; Evelyne Ruchti; Greta Limoni; Marine Van Campenhoudt; Samuel Bourgeat; Petra Henklein; Christian Gilissen; Bregje W. van Bon; Rolph Pfundt; Marjolein H. Willemsen; Jolanda H. Schieving; Emanuela Leonardi; Fiorenza Soli; Alessandra Murgia; Hui Guo; Qiumeng Zhang; Kun Xia; Christina R. Fagerberg; Christoph P. Beier; Martin J. Larsen; Irene Valenzuela; Paula Fernández-Álvarez; Shiyi Xiong; Robert Śmigiel; Vanesa López-González; Lluís Armengol; Manuela Morleo; Angelo Selicorni; Annalaura Torella; Moira Blyth; Nicola S. Cooper; Valerie Wilson; Renske Oegema; Yvan Herenger; Aurore Garde; Ange-Line Bruel; Frederic Tran Mau-Them; Alexis B.R. Maddocks; Jennifer M. Bain; Musadiq A. Bhat; Gregory Costain; Peter Kannu; Ashish Marwaha; Neena L. Champaigne; Michael J. Friez; Ellen B. Richardson; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Yask Gupta; Tze Y. Lim; Simone Sanna-Cherchi; Bruno Lemaitre; Toshiyuki Yamaji; Kentaro Hanada; John E. Burke; Ana Marjia Jakšić; Brian D. McCabe; Paolo De Los Rios; Thorsten Hornemann; Giovanni D’Angelo; Vincenzo A. Gennarino
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Academic Journal
St. Pierre, Roodolph; Collings, Clayton K.; Samé Guerra, Daniel D.; Widmer, Christian J.; Bolonduro, Olubusayo; Mashtalir, Nazar; Sankar, Akshay; Liang, Yu; Bi, Wenya Linda; Gerkes, Erica H.; Ramesh, Vijaya; Qi, Jun; Smith, Miriam J.; Meredith, David M.; Kadoch, Cigall
Nature Genetics. 54(6):861-873
Academic Journal
Zawerton, Ash ; Mignot, Cyril ; Sigafoos, Ashley ; Blackburn, Patrick R. ; Haseeb, Abdul ; McWalter, Kirsty ; Ichikawa, Shoji ; Nava, Caroline ; Keren, Boris ; Charles, Perrine ; Marey, Isabelle ; Tabet, Anne-Claude ; Levy, Jonathan ; Perrin, Laurence ; Hartmann, Andreas ; Lesca, Gaetan ; Schluth-Bolard, Caroline ; Monin, Pauline ; Dupuis-Girod, Sophie ; Guillen Sacoto, Maria J. ; Schnur, Rhonda E. ; Zhu, Zehua ; Poisson, Alice ; El Chehadeh, Salima ; Alembik, Yves ; Bruel, Ange-Line ; Lehalle, Daphné ; Nambot, Sophie ; Moutton, Sébastien ; Odent, Sylvie ; Jaillard, Sylvie ; Dubourg, Christèle ; Hilhorst-Hofstee, Yvonne ; Barbaro-Dieber, Tina ; Ortega, Lucia ; Bhoj, Elizabeth J. ; Masser-Frye, Diane ; Bird, Lynne M. ; Lindstrom, Kristin ; Ramsey, Keri M. ; Narayanan, Vinodh ; Fassi, Emily ; Willing, Marcia ; Cole, Trevor ; Salter, Claire G. ; Akilapa, Rhoda ; Vandersteen, Anthony ; Canham, Natalie ; Rump, Patrick ; Gerkes, Erica H. ; Klein Wassink-Ruiter, Jolien S. ; Bijlsma, Emilia ; Hoffer, Mariëtte ; Vargas, Marcelo ; Wojcik, Antonina ; Cherik, Florian ; Francannet, Christine ; Rosenfeld, Jill A. ; Machol, Keren ; Scott, Daryl A. ; Bacino, Carlos A. ; Wang, Xia ; Clark, Gary D. ; Bertoli, Marta ; Zwolinski, Simon ; Thomas, Rhys H. ; Akay, Ela ; Chang, Richard C. ; Bressi, Rebekah ; Sanchez Russo, Rossana ; Srour, Myriam ; Russell, Laura ; Goyette, Anne-Marie E. ; Dupuis, Lucie ; Mendoza-Londono, Roberto ; Karimov, Catherine ; Joseph, Maries ; Nizon, Mathilde ; Cogné, Benjamin ; Kuechler, Alma ; Piton, Amélie ; Klee, Eric W. ; Lefebvre, Véronique ; Clark, Karl J. ; Depienne, Christel
In Genetics in Medicine March 2020 22(3):524-537
Academic Journal
Leigh A. M. Demain; Erica. H. Gerkes; Richard J. H. Smith; Leslie P. Molina-Ramirez; Raymond T. O’Keefe; William G. Newman
J Hum Genet
Newman, W, Demain, L, O'Keefe, R & Molina Ramirez, L 2019, 'A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.', Journal of Human Genetics. https://doi.org/10.1038/s10038-019-0706-1
Newman, W, Demain, L, O'Keefe, R & Molina Ramirez, L 2019, 'A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families.', Journal of Human Genetics. https://doi.org/10.1038/s10038-019-0706-1
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Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
Academic Journal
Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
Academic Journal
Marjolijn C. Jongmans; Nicoline Hoogerbrugge; Roland P. Kuiper; Arjen R. Mensenkamp; Anja Wagner; Jan Loeffen; Eveline S. de Bont; Thatjana Gardeitchik; Anneke Vulto- van Silfhout; Denisa Ilencikova; Wojciech Mlynarski; Agata Pastorczak; Antonis Kattamis; Elizabeth Thompson; Lesley McGregor; Dylan Mordaunt; Martine J. van Belzen; Gijs W. Santen; Carlo Marcelis; David A. Koolen; Erica H. Gerkes; Maran J. Olderode-Berends; Saskia Hopman; Peter M. Hoogerbrugge; Eveline J. Kamping; Diede A.G. van Bladel; Marjolijn J. Ligtenberg; Esmé Waanders; Illja J. Diets
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In Genetics in Medicine June 2019 21(6):1295-1307
Academic Journal
Iris G. M. Wijnen; Hermine E. Veenstra-Knol; Fleur Vansenne; Erica H. Gerkes; Tom de Koning; Yvonne J. Vos; Marina A. J. Tijssen; Deborah Sival; Niklas Darin; Els K. Vanhoutte; Mayke Oosterloo; Maartje Pennings; Bart P. van de Warrenburg; Erik-Jan Kamsteeg
European Journal of Human Genetics, 28, 6, pp. 763-769
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