المؤلفون: Bryant, L., Li, D., Cox, S.G., Marchione, D., Joiner, E.F., Wilson, K., Janssen, K., Lee, P., March, M.E., Nair, D., Sherr, E., Fregeau, B., Wierenga, K.J., Wadley, A., Mancini, G.M.S., Powell-Hamilton, N., van de Kamp, J.M., Grebe, T., Dean, J., Ross, A., Crawford, H.P., Powis, Z., Cho, M.T., Willing, M.C., Manwaring, L., Schot, R., Nava, C., Afenjar, A., Lessel, D., Wagner, M., Klopstock, T., Winkelmann, J., Catarino, C.B., Retterer, K., Schuette, J.L., Innis, J.W., Pizzino, A., Lüttgen, S., Denecke, J., Strom, T.M., Monaghan, K.G., Yuan, Z.F., Dubbs, H., Bend, R., Lee, J.A., Lyons, M.J., Hoefele, J., Günthner, R., Reutter, H., Keren, B., Radtke, K., Sherbini, O., Mrokse, C., Helbig, K.L., Odent, S., Cogné, B., Mercier, S., Bézieau, S., Besnard, T., Küry, S., Redon, R., Reinson, K., Wojcik, M.H., Õunap, K., Ilves, P., Innes, A.M., Kernohan, K.D., Costain, G., Meyn, M.S., Chitayat, D., Zackai, E., Lehman, A., Kitson, H., Martin, M.G., Martinez-Agosto, J.A., Nelson, S.F., Palmer, C.G.S., Papp, J.C., Parker, N.H., Sinsheimer, J.S., Vilain, E., Wan, J., Yoon, A.J., Zheng, A., Brimble, E., Ferrero, G.B., Radio, F.C., Carli, D., Barresi, S., Brusco, A., Tartaglia, M., Thomas, J.M., Umana, L., Weiss, M.M., Gotway, G., Stuurman, K.E., Thompson, M.L., McWalter, K., Stumpel, C.T.R.M., Stevens, S.J.C., Stegmann, A.P.A., Tveten, K., Vøllo, A., Prescott, T., Fagerberg, C., Laulund, L.W., Larsen, M.J., Byler, M., Lebel, R.R., Hurst, A.C., Schrier Vergano, S.A., Norman, J., Mercimek-Andrews, S., Neira, J., Van Allen, M.I., Longo, N., Sellars, E., Louie, R.J., Cathey, S.S., Brokamp, E., Heron, D., Snyder, M., Vanderver, A., Simon, C., de la Cruz, X., Padilla, N., Crump, J.G., Chung, W., Garcia, B., Hakonarson, H.H., Bhoj, E.J.

المصدر: Sci. Adv. 6:106267 (2020)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; info:eu-repo/semantics/altIdentifier/isbn/2375-2548; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60727Test; urn:isbn:2375-2548; urn:issn:2375-2548

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60727Test

المؤلفون: Johnson, B.V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M.S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Allen, M. van, Gronborg, S., Mercier, S., Kury, S., Bezieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Villemeur, T.B. de, Keren, B., Desir, J., Maldergem, L. van, Marangoni, M., Dikow, N., Koolen, D.A., VanHasselt, P.M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C.F., Lopez-Otin, C., Santiago-Fernandez, O., Fernandez-Jaen, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S., Pena, L., Shashi, V., Schoch, K., Sullivan, J.A., Vairo, F.P.E., Pichurin, P.N., Ewing, S.A., Barnett, S.S., Klee, E.W., Perry, M.S., Koenig, M.K., Keegan, C.E., Schuette, J.L., Asher, S., Perilla-Young, Y., Smith, L.D., Rosenfeld, J.A., Bhoj, E., Kaplan, P., Li, D., Oegema, R., Binsbergen, E. van, Zwaag, B. van der, Smeland, M.F., Cutcutache, I., Page, M., Armstrong, M., Lin, A.E., Steeves, M.A., Hollander, N. den, Hoffer, M.J.V., Reijnders, M.R.F., Demirdas, S., Koboldt, D.C., Bartholomew, D., Mosher, T.M., Hickey, S.E., Shieh, C., Sanchez-Lara, P.A., Graham, J.M., Tezcan, K., Schaefer, G.B., Danylchuk, N.R., Asamoah, A., Jackson, K.E., Yachelevich, N., Au, M., Perez-Jurado, L.A., Kleefstra, T., Penzes, P., Wood, S.A., Burne, T., Pierson, T.M., Piper, M., Gecz, J., Jolly, L.A., Acosta, M.T., Adams, D.R., Aday, A., Alejandro, M.E., Allard, P., Ashley, E.A., Azamian, M.S., Bacino, C.A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Barbouth, D., Batzli, G.F., Beggs, A.H., Bellen, H.J., Bernstein, J.A., Berry, G.T., Bican, A., Bick, D.P., Birch, C.L., Bivona, S., Bonnenmann, C., Bonner, D., Boone, B.E., Bostwick, B.L., Briere, L.C., Brokamp, E., Brown, D.M., Brush, M., Burke, E.A., Burrage, L.C., Butte, M.J., Carrasquillo, O., Chang, T.C.P., Chao, H.T., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Cole, F.S., Colley, H.A., Cooper, C.M., Cope, H., Craigen, W.J., D'Souza, P., Dasari, S., Davids, M., Davidson, J.M., Dayal, J.G., Dell'Angelica, E.C., Dhar, S.U., Dorrani, N., Dorset, D.C., Douine, E.D., Draper, D.D., Dries, A.M., Duncan, L., Eckstein, D.J., Emrick, L.T., Eng, C.M., Enns, G.M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Friedman, N.D., Gahl, W.A., Godfrey, R.A., Goldman, A.M., Goldstein, D.B., Gourdine, J.P.F., Grajewski, A., Groden, C.A., Gropman, A.L., Haendel, M., Hamid, R., Hanchard, N.A., High, F., Holm, I.A., Hom, J., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jiang, Y.H., Johnston, J.M., Jones, A.L., Karaviti, L., Kelley, E.G., Koeller, D.M., Kohane, I.S., Kohler, J.N., Krakow, D., Krasnewich, D.M., Korrick, S., Koziura, M., Krier, J.B., Kyle, J.E., Lalani, S.R., Lam, B., Lanpher, B.C., Lanza, I.R., Lau, C.C., Lazar, J., LeBlanc, K., Lee, B.H., Lee, H., Levitt, R., Levy, S.E., Lewis, R.A., Lincoln, S.A., Liu, P.F., Liu, X.Z., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Majcherska, M.M., Malicdan, M.C.V., Mamounas, L.A., Manolio, T.A., Markello, T.C., Marom, R., Martin, M.G., Martinez-Agosto, J.A., Marwaha, S., May, T., McCauley, J., McConkie-Rosell, A., McCormack, C.E., McCray, A.T., Merker, J.D., Metz, T.O., Might, M., Morava-Kozicz, E., Moretti, P.M., Morimoto, M., Mulvihill, J.J., Murdock, D.R., Nath, A., Nelson, S.F., Newberry, J.S., Newman, J.H., Nicholas, S.K., Novacic, D., Oglesbee, D., Orengo, J.P., Pak, S., Pallais, J.C., Palmer, C.G.S., Papp, J.C., Parker, N.H., Phillips, J.A., Posey, J.E., Postlethwait, J.H., Potocki, L., Pusey, B.N., Renteri, G., Reuter, C.M., Rives, L., Robertson, A.K., Rodan, L.H., Rowley, R.K., Sacco, R., Sampson, J.B., Samson, S.L., Saporta, M., Schaechter, J., Schedl, T., Scott, D.A., Shakachite, L., Sharma, P., Shields, K., S

المصدر: Biological Psychiatry

مصطلحات موضوعية: Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGF beta, USP9X

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest; lumc-id: 81345414; https://hdl.handle.net/1887/3181481Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
https://hdl.handle.net/1887/3181481Test
https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3DihubTest

المؤلفون: Schully, S.D., Lam, T.K., Dotson, W.D., Chang, C.Q., Aronson, N., Birkeland, M.L., Brewster, S.J., Boccia, S., Buchanan, A.H., Calonge, N., Calzone, K., Djulbegovic, B., Goddard, K.A.B., Klein, R.D., Klein, T.E., Lau, J., Long, R., Lyman, G.H., Morgan, R.L., Palmer, C.G.S., Ling, M.V.R., Rubinstein, W.S., Swen, J.J., Terry, S.F., Williams, M.S., Khoury, M.J.

المصدر: Genetics in Medicine

مصطلحات موضوعية: evidence synthesis, genomic medicine, guideline development

العلاقة: lumc-id: 4299110; https://hdl.handle.net/1887/107424Test

الإتاحة: https://doi.org/10.1038/gim.2014.69Test
https://hdl.handle.net/1887/107424Test

المؤلفون: Carlstrom, L.K.¹, Woodward, J.A.¹, Palmer, C.G.S.²

المصدر: Risk Analysis: An International Journal. Jun2000, Vol. 20 Issue 3, p385-392. 8p.

مصطلحات موضوعية: Risk perception, Risk assessment

المؤلفون: Zhou, J.J., Pelka, S., Lange, K., Palmer, C.G.S., Sinsheimer, J.S.

المصدر: Genetic Epidemiology ; page n/a-n/a ; ISSN 0741-0395

الإتاحة: https://doi.org/10.1002/gepi.20591Test

المؤلفون: Martinez, A., Linden, J., Schimmenti, L.A., Palmer, C.G.S.

المصدر: Journal of Genetic Counseling; Dec2002, Vol. 11 Issue 6, p530, 2/3p