학술논문
'학술논문'
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1~10
Academic Journal
Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 25-34 (2021)
Academic Journal
Fellmann, F; van El, CG; Charron, P; Michaud, K; Howard, HC; Boers, SN; Clarke, AJ; Duguet, AM; Forzano, F; Kauferstein, S; Kayserili, H; Lucassen, A; Mendes, A; Patch, C; Radojkovic, D; Rial-Sebbag, E; Sheppard, MN; Tasse, AM; Temel, SG; Sajantila, A; Basso, C; Wilde, AAM; Cornel, MC; Benjamin, C; Borry, P; Clarke, A; Cordier, C; Cornel, M; van El, C; Howard, H; Melegh, B; Perola, M; Peterlin, B; Rogowski, W; Soller, M; Stefansdottir, V; de Wert, G
European journal of human genetics : EJHG. 27(12):1763-1773
Academic Journal
Acuna-Hidalgo, R; Schanze, D; Kariminejad, A; Nordgren, A; Kariminejad, MH; Conner, P; Grigelioniene, G; Nilsson, D; Nordenskjold, M; Wedell, A; Freyer, C; Wredenberg, A; Wieczorek, D; Gillessen-Kaesbach, G; Kayserili, H; Elcioglu, N; Ghaderi-Sohi, S; Goodarzi, P; Setayesh, H; van de Vorst, M; Steehouwer, M; Pfundt, R; Krabichler, B; Curry, C; MacKenzie, MG; Boycott, KM; Gilissen, C; Janecke, AR; Hoischen, A; Zenker, M
American journal of human genetics. 95(3):285-293
Academic Journal
Balkan Journal of Medical Genetics, Vol 12, Iss 1, Pp 61-64 (2009)
Academic Journal
Iida, A; Simsek-Kiper, PO; Mizumoto, S; Hoshino, T; Elcioglu, N; Horemuzova, E; Geiberger, S; Yesil, G; Kayserili, H; Utine, GE; Boduroglu, K; Watanabe, S; Ohashi, H; Alanay, Y; Sugahara, K; Nishimura, G; Ikegawa, S
Human mutation. 34(10):1381-1386
Academic Journal
Arjan F Theil; Alex Pines; Tuğba Kalayci; José M Heredia‐Genestar; Anja Raams; Marion H Rietveld; Sriram Sridharan; Sabine EJ Tanis; Klaas W Mulder; Nesimi Büyükbabani; Birsen Karaman; Zehra O Uyguner; Hülya Kayserili; Jan HJ Hoeijmakers; Hannes Lans; Jeroen AA Demmers; Joris Pothof; Umut Altunoglu; Abdoelwaheb El Ghalbzouri; Wim Vermeulen
EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)
Academic Journal
Rebekkah J. Hitti-Malin; Daan M. Panneman; Zelia Corradi; Erica G. M. Boonen; Galuh Astuti; Claire-Marie Dhaenens; Heidi Stöhr; Bernhard H. F. Weber; Dror Sharon; Eyal Banin; Marianthi Karali; Sandro Banfi; Tamar Ben-Yosef; Damjan Glavač; G. Jane Farrar; Carmen Ayuso; Petra Liskova; Lubica Dudakova; Marie Vajter; Monika Ołdak; Jacek P. Szaflik; Anna Matynia; Michael B. Gorin; Kati Kämpjärvi; Miriam Bauwens; Elfride De Baere; Carel B. Hoyng; Catherina H. Z. Li; Caroline C. W. Klaver; Chris F. Inglehearn; Kaoru Fujinami; Carlo Rivolta; Rando Allikmets; Jana Zernant; Winston Lee; Osvaldo L. Podhajcer; Ana Fakin; Jana Sajovic; Alaa AlTalbishi; Sandra Valeina; Gita Taurina; Andrea L. Vincent; Lisa Roberts; Raj Ramesar; Giovanna Sartor; Elena Luppi; Susan M. Downes; L. Ingeborgh van den Born; Terri L. McLaren; John N. De Roach; Tina M. Lamey; Jennifer A. Thompson; Fred K. Chen; Anna M. Tracewska; Smaragda Kamakari; Juliana Maria Ferraz Sallum; Hanno J. Bolz; Hülya Kayserili; Susanne Roosing; Frans P. M. Cremers
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Academic Journal
Lavillaureix, A.; Rollier, P.; Poirel, E.; Akloul, L.; Quélin, C.; Odent, S.; Kim, A.; Panasenkava, V.; De Tayrac, M.; Carré, W.; Guyodo, H.; Faoucher, M.; Dubourg, C.; Dupé, V.; Whalen, S.; Bos, J.; Broekema, M.; van Hagen, J.M.; Grand, K.; Allen-Sharpley, M.; Magness, E.; McLean, S.D.; Kayserili, H.; Altunoglu, U.; Reversade, B.; En Qi Chong, A.; Xue, S.; Jeanne, M.; Almontashiri, N.; Habhab, W.; Vanlerberghe, C.; Faivre, L.; Viora-Dupont, E.; Philippe, C.; Safraou, H.; Laffargue, F.; Mittendorf, L.; Abou Jamra, R.; Patil, S.J.; Dalal, A.; Sarma, A.S.; Keren, B.
In: Genetics in Medicine . (Genetics in Medicine, July 2024, 26(7))
Academic Journal
Cortese, A.; Facchini, S.; Curro, R.; Dominik, N.; Schnekenberg, R.P.; Tucci, A.; Houlden, H.; Hanna, M.G.; Bugiardini, E.; Pitceathly, R.D.S.; Pellerin, D.; Ghia, A.; Simone, R.; Rossor, A.M.; Reilly, M.M.; Tassorelli, C.; Quartesan, I.; Beecroft, S.J.; Cabrera-Serrano, M.; Folland, C.; Monahan, G.; Scriba, C.K.; Dofash, L.; Johari, M.; Laing, N.G.; Ravenscroft, G.; Stevanovski, I.; Chintalaphani, S.R.; Gamaarachchi, H.; Deveson, I.W.; Weisburd, B.; Grosz, B.R.; Ellis, M.; Nicholson, G.; Kennerson, M.; Vucic, S.; Fearnley, L.G.; Bahlo, M.; Tankard, R.; Read, J.; Delatycki, M.B.; Amor, D.J.; Lockhart, P.J.; Merve, A.; Vegezzi, E.; Fernandez-Eulate, G.; Masingue, M.; Stojkovic, T.; Giovannini, D.; Storey, E.; Gardner, M.; Henderson, R.D.; Robertson, T.; Dyke, J.; Fabian, V.; Mastaglia, F.; Davis, M.R.; Quinlivan, R.; Hammans, S.; Carroll, L.; McLean, C.A.; Lamont, P.J.; Fahey, M.C.; Oflazer, P.; Başak, N.A.; Kayserili, H.; Yeşil, G.; Malfatti, E.; Lilliker, J.B.; Wicklund, M.; Brady, S.; Brais, B.; Zuchner, S.; Danzi, M.C.; Grandis, M.; Comi, G.P.; Corti, S.P.; Abati, E.; Manini, A.; Toscano, A.; Straub, V.; Udd, B.; Chen, Z.; Bonne, G.
In: Nature Communications . (Nature Communications, December 2024, 15(1))
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Nashabat, M.; Nabavizadeh, N.; Saraçoğlu, H.P.; Sarıbaş, B.; Yılmaz, E.; Uygur, S.E.; Eren, Z.B.; Escande-Beillard, N.; Avcı, Ş.; Börklü, E.; Kayserili, H.; Beillard, E.; Kayhan, C.K.; Bosco, L.; Zanni, G.; Steindl, K.; Rauch, A.; Bahr, A.; Richter, M.F.; Bademci, G.; Peart, L.; Gonzalez, J.M.; Zuchner, S.; Bivona, S.A.; Tekin, M.; Fattahi, Z.; Kariminejad, A.; Valentino, M.L.; Connolly, A.M.; Viola, L.; Bergmann, A.K.; von Hardenberg, S.; Rocha, M.E.; Khan, S.; Pinto, A.; Bertoli-Avella, A.; Castro-Rojas, D.L.; Bültmann, E.; Giarrana, M.L.; Teleanu, R.I.; Epure, D.A.; Pini, A.; Schädlich, I.S.; Vill, K.; Brunet, T.; Brugger, M.; Zuchner, S.; Tekin, M.; Donkervoort, S.; Bönnemann, C.G.; Riza, A.; Streata, I.; Gläser, D.; Baquero-Montoya, C.; Garcia-Restrepo, N.; Kotzaeridou, U.; Stettner, G.M.; Oflazer, Z.P.
In: Nature Communications . (Nature Communications, December 2024, 15(1))
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