المؤلفون: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R

المصدر: Brain : a journal of neurology. 142(11)

مصطلحات موضوعية: Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

URL الوصول: https://escholarship.org/uc/item/3hj2q3k2

المؤلفون: Gupta, N, Henry, RG, Strober, J, Kang, SM, Lim, DA, Bucci, M, Caverzasi, E, Gaetano, L, Mandelli, ML, Ryan, T, Perry, R, Farrell, J, Jeremy, RJ, Ulman, M, Huhn, SL, Barkovich, AJ, Rowitch, DH

المصدر: Science Translational Medicine. 4(165)

مصطلحات موضوعية: Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Neurosciences, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2ns4g0w6

المؤلفون: Gupta, N, Henry, RG, Strober, J, Kang, SM, Lim, DA, Bucci, M, Caverzasi, E, Gaetano, L, Mandelli, ML, Ryan, T, Perry, R, Farrell, J, Jeremy, RJ, Ulman, M, Huhn, SL, Barkovich, AJ, Rowitch, DH

المصدر: Science Translational Medicine. 4(165)

مصطلحات موضوعية: Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2ns4g0w6

المؤلفون: Rots, D., Chater-Diehl, E., Dingemans, A.J.M., Goodman, S.J., Siu, M.T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R.P., Rinne, T.K., Gardeitchik, T., Vries, B.B.A. de, Deden, A.C., Leenders, E.K.S.M., Kwint, M.P., Stumpel, C., Stevens, S.J.C., Vermeulen, J.R., Harssel, J.V.T. van, Bosch, D.G.M., Gassen, K.L.I. van, Binsbergen, E. van, Geus, C.M. de, Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I.M., Yang, H., Zou, F., Millan, F., Person, R., Xie, Y., Liu, S., Ousager, L.B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E.W., Berry, I.R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A.M., Radley, J.A., Phornphutkul, C., Schmidt, B., Wilson, W.G., Õunap, K., Reinson, K., Pajusalu, S., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Míguez, M., Ritter, A., Bhoj, E., Tønne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M.J., Cohn, R.D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S.W., Brunner, H.G., Vissers, L.E., Kleefstra, T., Koolen, D.A., Weksberg, R.

المصدر: American Journal of Human Genetics; 1053; 1068; 0002-9297; 6; vol. 108; ~American Journal of Human Genetics~1053~1068~~~0002-9297~6~108~~

المؤلفون: Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Siu, M., Cytrynbaum, C., Hoang, N., Walker, S., Scherer, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B. B. A., Stumpel, C. T. R. M., Stevens, S. J. C., Harssel, J., Bosch, D. G. M., Gassen, K. L. I., Binsbergen, E., Geus, C. M., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Lilian Bomme Ousager, Martin Jakob Larsen, Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Wilson, W. G., Schmidt, B., Meyn, S., Ounap, K., Reinson, K., Pajusalu, S., Ruivenkamp, C., Haeringen, A., Cuperus, R., Vissers, L. E. L. M., Brunner, H. G., Kleefstra, T., Koolen, D. A., Weksberg, R., GeneDx Inc

المصدر: Rots, D, Chater-Diehl, E, Dingemans, A J M, Siu, M, Cytrynbaum, C, Hoang, N, Walker, S, Scherer, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Stumpel, C T R M, Stevens, S J C, van Harssel, J, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Neumeyer, A M, Radley, J A, Phornphutkul, C, Wilson, W G, Schmidt, B, Meyn, S, Ounap, K, Reinson, K, Pajusalu, S, Ruivenkamp, C, van Haeringen, A, Cuperus, R, Vissers, L E L M, Brunner, H G, Kleefstra, T, Koolen, D A, Weksberg, R & Inc, G 2020, ' Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 34-35 .
University of Southern Denmark

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2bcbc5487b6c7b63cd6aea418b402ba
https://portal.findresearcher.sdu.dk/da/publications/e3228e28-d4fc-4a07-8480-3fb7a895b3d2

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