학술논문
'학술논문'
에서 검색결과 84건 | 목록
30~40
Academic Journal
Küry, S.; Besnard, T.; Latypova, X.; Pacault, M.; Schmitt, S.; Deb, W.; Nizon, M.; Mercier, S.; Vincent, M.; Cogné, B.; Bézieau, S.; Isidor, B.; Ebstein, F.; Lehmann, A.; Kloetzel, P.-M.; Khan, T.N.; Khan, K.; Katsanis, N.; Golzio, C.; Gambin, T.; Bacino, C.A.; Roeder, E.; Yuan, B.; Xia, F.; Shaw, C.A.; Patel, A.; Smith, J.L.; Bi, W.; Lupski, J.R.; Yang, Y.; Rosenfeld, J.A.; Stankiewicz, P.; Douglas, J.; Sacharow, S.; Sanders, S.J.; Glaser, K.; Barbouth, D.; Bieth, E.; Perrin-Sabourin, L.; Jacquemont, M.-L.; Cho, M.T.; Monaghan, K.G.; Retterer, K.; Nugent, K.M.; Denommé-Pichon, A.-S.; Bonneau, D.; Simon, S.; Parent, P.; Gilbert-Dussardier, B.; Odent, S.; Pasquier, L.; Toutain, A.; Rooryck, C.; Malan, V.; Briceño, I.; Gómez, A.; Gibson, J.B.; Stessman, H.A.F.; Eichler, E.E.; Redon, R.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 February 2017, 100(2):352-363)
Academic Journal
Berko, E.R.; Chung, W.K.; Cho, M.T.; Retterer, K.; Millan, F.; Eng, C.; Shao, Y.; Sweetser, D.A.; Waxler, J.; Robin, N.H.; Brewer, F.; Donkervoort, S.; Mohassel, P.; Bönnemann, C.G.; Bialer, M.; Moore, C.; Wolfe, L.A.; Tifft, C.J.; Shen, Y.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 February 2017, 54(2):93-99)
Academic Journal
Ma, L.; Chung, W.K.; Bayram, Y.; Shao, Y.; Scott, D.A.; Lewis, A.M.; White, J.J.; Jhangiani, S.N.; Lalani, S.R.; Lupski, J.R.; McLaughlin, H.M.; Cho, M.T.; Retterer, K.; Schnur, R.E.; Wentzensen, I.M.; Bale, S.; Krokosky, A.; Turner, C.E.; Lindstrom, K.; Bupp, C.P.; Mayberry, K.; Mu, W.; Bodurtha, J.; Weinstein, V.; Zadeh, N.; Alcaraz, W.; Powis, Z.; Gulec, E.Y.
In: Human Genetics . (Human Genetics, 1 December 2016, 135(12):1399-1409)
Academic Journal
Webster, E.; Cho, M.T.; Alexander, N.; Retterer, K.; Juusola, J.; Desai, S.; Naidu, S.; Bekheirnia, M.R.; Lewis, A.; Chung, W.K.
In: Cold Spring Harbor molecular case studies . (Cold Spring Harbor molecular case studies, 1 November 2016, 2(6):a001172)
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Academic Journal
Bain, J.M.; Cho, M.T.; Telegrafi, A.; Retterer, K.; Monaghan, K.G.; Wilson, A.; Chung, W.K.; Brooks, S.; Botti, C.; Gowans, G.; Autullo, L.A.; Krishnamurthy, V.; Willing, M.C.; Toler, T.L.; Ben-Zev, B.; Elpeleg, O.; Shen, Y.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 September 2016, 99(3):728-734)
Academic Journal
Retterer, K.; Juusola, J.; Cho, M.T.; Vitazka, P.; Millan, F.; Gibellini, F.; Vertino-Bell, A.; Smaoui, N.; Neidich, J.; Monaghan, K.G.; McKnight, D.; Bai, R.; Suchy, S.; Friedman, B.; Tahiliani, J.; Pineda-Alvarez, D.; Richard, G.; Brandt, T.; Haverfield, E.; Bale, S.; Chung, W.K.
In: Genetics in Medicine . (Genetics in Medicine, 1 July 2016, 18(7):696-704)
Academic Journal
Beck, D.B.; Chung, W.K.; Cho, M.T.; Millan, F.; Yates, C.; Retterer, K.; Begtrup, A.; Bai, R.; Hannibal, M.; O’Connor, B.; Shinawi, M.; Connolly, A.M.; Waggoner, D.; Halbach, S.; Angle, B.; Sanders, V.; Shen, Y.
In: Neurogenetics . (Neurogenetics, 1 July 2016, 17(3):173-178)
Academic Journal
Millan, F.; Cho, M.T.; Retterer, K.; Monaghan, K.G.; Bai, R.; Vitazka, P.; Haverfield, E.; Friedman, B.; Telegrafi, A.; Juusola, J.; Bale, S.; Everman, D.B.; Smith, B.; Angle, B.; Roberts, V.; Immken, L.; Nagakura, H.; DiFazio, M.; Sherr, E.; Chung, W.K.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 July 2016, 170(7):1791-1798)
Academic Journal
Okur, V.; Chung, W.K.; Cho, M.T.; Henderson, L.; Retterer, K.; Dameron, A.; Willaert, R.; Baskin, B.; Juusola, J.; Schneider, M.; Sattler, S.; Niyazov, D.; Azage, M.; Smith, S.; Picker, J.; Lincoln, S.; Tarnopolsky, M.; Brady, L.; Bjornsson, H.T.; Applegate, C.
In: Human Genetics . (Human Genetics, 1 July 2016, 135(7):699-705)
Academic Journal
Steinfeld, H.; Chung, W.K.; Cho, M.T.; Retterer, K.; Person, R.; Monaghan, K.G.; Henderson, L.B.; Schaefer, G.B.; Danylchuk, N.; Malik, S.; Wechsler, S.B.; Wheeler, P.G.; van Gassen, K.L.I.; Terhal, P.A.; Verhoeven, V.J.M.; van Slegtenhorst, M.A.
In: Neurogenetics . (Neurogenetics, 1 July 2016, 17(3):159-164)
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[AR] Retterer, K.
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