학술논문
'학술논문'
에서 검색결과 48건 | 목록
1~10
Academic Journal
Vincenzo Salpietro; Christine L. Dixon; Hui Guo; Oscar D. Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Stephanie Valence; Erin Torti; Moritz Hacke; Julia Rankin; Huma Tariq; Estelle Colin; Vincent Procaccio; Pasquale Striano; Kshitij Mankad; Andreas Lieb; Sharon Chen; Laura Pisani; Conceicao Bettencourt; Roope Männikkö; Andreea Manole; Alfredo Brusco; Enrico Grosso; Giovanni Battista Ferrero; Judith Armstrong-Moron; Sophie Gueden; Omer Bar-Yosef; Michal Tzadok; Kristin G. Monaghan; Teresa Santiago-Sim; Richard E. Person; Megan T. Cho; Rebecca Willaert; Yongjin Yoo; Jong-Hee Chae; Yingting Quan; Huidan Wu; Tianyun Wang; Raphael A. Bernier; Kun Xia; Alyssa Blesson; Mahim Jain; Mohammad M. Motazacker; Bregje Jaeger; Amy L. Schneider; Katja Boysen; Alison M. Muir; Candace T. Myers; Ralitza H. Gavrilova; Lauren Gunderson; Laura Schultz-Rogers; Eric W. Klee; David Dyment; Matthew Osmond; Mara Parellada; Cloe Llorente; Javier Gonzalez-Peñas; Angel Carracedo; Arie Van Haeringen; Claudia Ruivenkamp; Caroline Nava; Delphine Heron; Rosaria Nardello; Michele Iacomino; Carlo Minetti; Aldo Skabar; Antonella Fabretto; SYNAPS Study Group; Miquel Raspall-Chaure; Michael Chez; Anne Tsai; Emily Fassi; Marwan Shinawi; John N. Constantino; Rita De Zorzi; Sara Fortuna; Fernando Kok; Boris Keren; Dominique Bonneau; Murim Choi; Bruria Benzeev; Federico Zara; Heather C. Mefford; Ingrid E. Scheffer; Jill Clayton-Smith; Alfons Macaya; James E. Rothman; Evan E. Eichler; Dimitri M. Kullmann; Henry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Academic Journal
Salpietro, Vincenzo; Dixon, Christine L.; Guo, Hui; Bello, Oscar D.; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G.; Santiago-Sim, Teresa; Person, Richard E.; Cho, Megan T.; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A.; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M.; Jaeger, Bregje; Schneider, Amy L.; Boysen, Katja; Muir, Alison M.; Myers, Candace T.; Gavrilova, Ralitza H.; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W.; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; SYNAPS Study Group; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N.; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C.; Scheffer, Ingrid E.; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E.; Eichler, Evan E.; Kullmann, Dimitri M.; Houlden, Henry
Nature Communications. 10(1)
Academic Journal
Calame, D.G.; Herman, I.; Pehlivan, D.; Gerard, A.; Lalani, S.; Lupski, J.R.; Jolly, A.; Dawood, M.; Fatih, J.M.; Du, H.; Mitani, T.; Coban-Akdemir, Z.; Marafi, D.; Posey, J.E.; Gibbs, R.A.; Guo, T.; Wang, C.; Liu, L.; Cheung, H.-H.; Gu, S.; Garrett, L.; Becker, L.; Rathkolb, B.; Gerlini, R.; Seisenberger, C.; Marschall, S.; Gailus-Durner, V.; Fuchs, H.; Hrabě de Angelis, M.; Hölter, S.M.; Jhangiani, S.N.; Kurolap, A.; Henig, N.Z.; Yaron, Y.; Hunter, J.V.; Heidlebaugh, A.; Challman, T.; Spillmann, R.C.; Tan, Q.K.G.; Shashi, V.; Revah-Politi, A.; Baugh, E.; Iglesias, A.; Guzman, E.; Boddaert, N.; Rondeau, S.; Ormieres, C.; Barcia, G.; Thiffault, I.; Pastinen, T.; Sheikh, K.; Biliciler, S.; Mei, D.; Melani, F.; Guerrini, R.; Steele, M.; Wakeling, E.; Østergaard, E.; Nazaryan-Petersen, L.; Millan, F.; Santiago-Sim, T.; Thevenon, J.; Bruel, A.-L.; Thauvin-Robinet, C.; Popp, D.; Platzer, K.; Gawlinski, P.; Wiszniewski, W.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 August 2023, 110(8):1394-1413)
Academic Journal
von Wintzingerode, L.; Hentschel, J.; Abou Jamra, R.; Oppermann, H.; Ben-Zeev, B.; Cesario, C.; Chan, K.M.; Bekheirnia, M.R.; Depienne, C.; Elpeleg, O.; Iascone, M.; Kelley, W.V.; Thompson, M.L.; Nassogne, M.-C.; Niceta, M.; Tartaglia, M.; Pezzani, L.; Rahner, N.; Revencu, N.; Santiago-Sim, T.; Trivisano, M.; Sticht, H.
In: Genetics in Medicine . (Genetics in Medicine, July 2023, 25(7))
Academic Journal
O'Grady, L.; Sweetser, D.A.; Gold, N.B.; Schrier Vergano, S.A.; Hoffman, T.L.; Sarco, D.; Cherny, S.; Bryant, E.; Schultz-Rogers, L.; Chung, W.K.; Sacharow, S.; Rodan, L.; Immken, L.L.; Holder, S.; Blackwell, R.R.; Buchanan, C.; Yusupov, R.; Lecoquierre, F.; Guerrot, A.-M.; de Vries, B.B.A.; Kamsteeg, E.J.; Santos Simarro, F.; Palomares-Bralo, M.; Brown, N.; Pais, L.; Ferrer, A.; Klee, E.W.; Babovic-Vuksanovic, D.; Rhodes, L.; Person, R.; Begtrup, A.; Keller-Ramey, J.; Santiago-Sim, T.; Schnur, R.E.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, September 2022, 188(9):2750-2759)
Academic Journal
Ahring, P.K.; Liao, V.W.Y.; Chebib, M.; Gardella, E.; Johannesen, K.M.; Fenger, C.D.; Møller, R.S.; Krey, I.; Platzer, K.; Lemke, J.R.; Selmer, K.K.; Stadheim, B.F.; Davis, H.; Peinhardt, C.; Koko, M.; Lerche, H.; Coorg, R.K.; Syrbe, S.; Bertsche, A.; Santiago-Sim, T.; Diemer, T.; Eichler, E.E.
In: Brain . (Brain, 1 April 2022, 145(4):1299-1309)
Academic Journal
Scala, M.; Striano, P.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Maroofian, R.; Houlden, H.; Wortmann, S.B.; Kaya, N.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; AlMass, R.; AlHargan, A.; Alqudairy, H.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Alkuraya, F.S.; Stellingwerff, M.D.; van der Knaap, M.S.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Ribes, A.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Khan, S.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Akhondian, J.; Ashrafzadeh, F.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Lines, M.A.; García Cazorla, M.Á.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Shashkin, C.; Koneev, K.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.
In: Human Mutation . (Human Mutation, March 2022, 43(3):403-419)
Academic Journal
Laboy Cintron, D.; Muir, A.M.; Mefford, H.C.; Scott, A.; McDonald, M.; Monaghan, K.G.; Santiago-Sim, T.; Wentzensen, I.M.; De Luca, C.; Brancati, F.; Harris, D.J.; Goueli, C.; Prada, C.E.; Stottmann, R.; Biderman Waberski, M.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 13 January 2022, 3(1))
Academic Journal
van der Welle, R.E.N.; Sanza, P.; van der Beek, J.A.; ten Brink, C.; Veenendaal, T.; Liv, N.; Klumperman, J.; Jobling, R.; Yoon, G.; Chitayat, D.; Burns, C.; Chen, L.; Asensio, C.S.; Fasano, A.; Sepulveda, C.; Lozano, A.M.; Zwartkruis, F.J.; Zwakenberg, S.; Griffin, E.F.; Caldwell, G.A.; Caldwell, K.A.; van Ravenswaaij-Arts, C.M.A.; Lemmink, H.H.; Pfundt, R.; Blaser, S.; Santiago-Sim, T.
In: EMBO Molecular Medicine . (EMBO Molecular Medicine, 7 May 2021, 13(5))
Academic Journal
Snijders Blok, L.; Brunner, H.G.; Kleefstra, T.; Vino, A.; den Hoed, J.; Fisher, S.E.; Underhill, H.R.; Monteil, D.; Li, H.; Reynoso Santos, F.J.; Chung, W.K.; Amaral, M.D.; Schnur, R.E.; Santiago-Sim, T.; Si, Y.
In: Genetics in Medicine . (Genetics in Medicine, March 2021, 23(3):534-542)
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