학술논문
'학술논문'
에서 검색결과 80건 | 목록
1~10
Academic Journal
Japee, S.; Jordan, J.; Licht, J.; Lokey, S.; Baker, C.; Ungerleider, L.G.; Chen, G.; Snow, J.; Jabs, E.W.; Webb, B.D.; Engle, E.C.; Manoli, I.
In: Cortex . (Cortex, December 2023, 169:35-49)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, November 2023, 191(11):2743-2748)
Academic Journal
D'Onofrio, G.; Zara, F.; Striano, P.; Cuccurullo, C.; Coppola, A.; Bilo, L.; Larsen, S.K.; Brønstad, K.; Arnesen, T.; Severino, M.; D'Amico, A.; AlOwain, M.; Morrison, J.L.; Wheeler, P.G.; Webb, B.D.; Alfalah, A.; Iacomino, M.; Uva, P.; Merla, G.; Salpietro, V.D.; Accogli, A.
In: Clinical Genetics . (Clinical Genetics, September 2023, 104(3):371-376)
Academic Journal
Tenney, A.P.; Di Gioia, S.A.; Chan, W.-M.; Garnai, S.J.; Barry, B.J.; Ray, T.; Collins, T.E.; Gelber, A.; Pratt, B.M.; Torres, A.; Engle, E.C.; Whitman, M.C.; Webb, B.D.; Zhang, Z.; Warburton, P.E.; Jabs, E.W.; Orkin, S.H.; de Boer, E.; Kleefstra, T.; Vissers, L.E.L.M.; van Bokhoven, H.; Kosicki, M.; Pennacchio, L.A.; Robson, C.D.; Fujiwara, Y.; Varshney, A.; Parker, S.C.J.; Lek, M.; Van Ryzin, C.; Manoli, I.; Lehky, T.J.; Zalewski, C.; King, K.A.; Brewer, C.C.; Thurm, A.; Snow, J.; Facio, F.M.; Narisu, N.; Bonnycastle, L.L.; Swift, A.; Chines, P.S.; Collins, F.S.; Bell, J.L.; Mohan, S.; Hadlock, T.A.; Staffieri, S.E.; Elder, J.E.; Demer, J.L.; Rachid, E.; Al-Haddad, C.; Boustany, R.-M.; Mackey, D.A.; Brady, A.F.; Fenollar-Cortés, M.; Fradin, M.; Padberg, G.W.; Raskin, S.; Sato, M.T.
In: Nature Genetics . (Nature Genetics, July 2023, 55(7):1149-1163)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, April 2023, 191(4):1089-1093)
Academic Journal
Webb, B.D.; Ganesh, J.; Leandro, J.; Evans, A.; Gelb, B.D.; Houten, S.M.; Nowinski, S.M.; Solmonson, A.; Vu, H.S.; Deberardinis, R.J.; Rodenburg, R.J.; Naidich, T.P.; Rutter, J.
In: eLife . (eLife, March 2023, 12)
Academic Journal
Whitman, M.C.; MacKinnon, S.; Hunter, D.G.; Barry, B.J.; Chan, W.-M.; Engle, E.C.; Robson, C.D.; Facio, F.M.; Van Ryzin, C.; Lee, P.R.; Collins, F.S.; Manoli, I.; Lehky, T.J.; Thurm, A.; Zalewski, C.; King, K.A.; Brewer, C.; Almpani, K.; Lee, J.S.; Webb, B.D.; Delaney, A.; FitzGibbon, E.J.; Toro, C.; Paul, S.M.; Abdul-Rahman, O.A.; Jabs, E.W.; Moller, H.U.; Larsen, D.A.; Antony, J.H.; Troedson, C.; Ma, A.; Ragnhild, G.; Wirgenes, K.V.; Tham, E.; Kvarnung, M.; Maarup, T.J.
In: Human Genetics . (Human Genetics, December 2021, 140(12):1709-1731)
Academic Journal
Morrison, J.; Wheeler, P.G.; Altuwaijri, N.K.; Alsaif, H.S.; Hashem, M.; Alkuraya, F.S.; Brønstad, K.; Aksnes, H.; Arnesen, T.; Evans, A.; Webb, B.D.
In: Genetics in Medicine . (Genetics in Medicine, November 2021, 23(11):2213-2218)
Academic Journal
In: European Journal of Human Genetics . (European Journal of Human Genetics, October 2021, 29(10):1566-1569)
Academic Journal
Webb, B.D.; Evans, A.; Brennand, K.J.; Schadt, E.E.; Naidich, T.P.; Hung, P.; M. Bird, L.; Parikh, S.; Fernandez Garcia, M.; Henderson, L.B.; Millan, F.; Si, Y.; Rucker, J.C.; Wheeler, P.G.
In: Human Mutation . (Human Mutation, June 2021, 42(6):685-693)
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[AR] Webb, B.D.
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