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1دورية أكاديمية
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., 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., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap 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., Vollo 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.
المساهمون: 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., 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., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap 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.
مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test
الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test -
2دورية أكاديمية
المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.
المساهمون: The DDD study
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test
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3دورية أكاديمية
المؤلفون: Palmer, EE, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, Van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, HH, Delgado, MR, Sirsi, D, Golla, S, Sommer, A, Pietryga, MP, Chung, WK, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, BM, Grange, DK, Manwaring, L, Tolmie, J, Joss, S, Study, DDD, Cobben, JM, Duijkers, FAM, Goehringer, JM, Challman, TD, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, SP, Niu, Z, Rosenfeld, JA, Stankiewicz, P, Jentsch, TJ, Gecz, J, Field, M, Kalscheuer, VM, Palmer, Elizabeth
المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 23, 2, 222-230
مصطلحات موضوعية: Clinical Research, Behavioral and Social Science, Epilepsy, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Mental Health, Neurosciences, Genetics, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological, Adolescent, Adult, Aged, Animals, Child, Preschool, Chloride Channels, Epileptic Syndromes, Family, Female, Genes, X-Linked, Genetic Diseases, Germ-Line Mutation, Humans, Intellectual Disability, Male
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_50174Test; https://unsworks.unsw.edu.au/bitstreams/95ddf8fb-397d-4fd0-bcb8-029ad8f9e77c/downloadTest; https://doi.org/10.1038/mp.2016.135Test
الإتاحة: https://doi.org/10.1038/mp.2016.135Test
http://hdl.handle.net/1959.4/unsworks_50174Test
https://unsworks.unsw.edu.au/bitstreams/95ddf8fb-397d-4fd0-bcb8-029ad8f9e77c/downloadTest -
4دورية أكاديمية
المؤلفون: Palmer, E., Stuhlmann, T., Weinert, S., Haan, E., van Esch, H., Holvoet, M., Boyle, J., Leffler, M., Raynaud, M., Moraine, C., van Bokhoven, H., Kleefstra, T., Kahrizi, K., Najmabadi, H., Ropers, H., Delgado, M., Sirsi, D., Golla, S., Sommer, A., Pietryga, M., Chung, W., Wynn, J., Rohena, L., Bernardo, E., Hamlin, D., Faux, B., Grange, D., Manwaring, L., Tolmie, J., Joss, S., Study, D., Cobben, J., Duijkers, F., Goehringer, M., Challman, T., Hennig, F., Fischer, U., Grimme, A., Suckow, V., Musante, L., Nicholl, J., Shaw, M., Lodh, S., Niu, Z., Rosenfeld, A., Stankiewicz, P., Jentsch, T., Gecz, J., Field, M., Kalscheuer, V.
المصدر: Molecular Psychiatry
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/11858/00-001M-0000-002E-16FB-6Test; http://hdl.handle.net/11858/00-001M-0000-002E-16FD-2Test
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5دورية أكاديمية
المؤلفون: Palmer, E.E., Stuhlmann, T., Weinert, S., Haan, E., Van Esch, H., Holvoet, M., Boyle, J., Leffler, M., Raynaud, M., Moraine, C., van Bokhoven, H., Kleefstra, T., Kahrizi, K., Najmabadi, H., Ropers, H.-H., Delgado, M.R., Sirsi, D., Golla, S., Sommer, A., Pietryga, M.P., Chung, W.K., Wynn, J., Rohena, L., Bernardo, E., Hamlin, D., Faux, B.M., Grange, D.K., Manwaring, L., Tolmie, J., Joss, S., Study, D.D.D., Cobben, J.M., Duijkers, F.A.M., Goehringer, J.M., Challman, T.D., Hennig, F., Fischer, U., Grimme, A., Suckow, V., Musante, L., Nicholi, J., Shaw, M., Lodh, S.P., Niu, Z., Rosenfeld, J.A., Stankiewicz, P., Jentsch, T. J., Gecz, J., Field, M., Kalscheuer, V.M.
المصدر: Molecular psychiatry, Advance online publication
العلاقة: https://repository.publisso.de/resource/frl:6403602Test; http://dx.doi.org/10.1038/mp.2016.135Test; http://www.nature.com/mp/journal/vaop/ncurrent/extref/mp2016135x1.docTest
الإتاحة: https://doi.org/10.1038/mp.2016.135Test
https://repository.publisso.de/resource/frl:6403602Test
http://www.nature.com/mp/journal/vaop/ncurrent/extref/mp2016135x1.docTest -
6دورية أكاديمية
المؤلفون: Lugar, Heather M., Koller, Jonathan M., Rutlin, Jerrel, Marshall, Bess A., Kanekura, Kohsuke, Urano, Fumihiko, Bischoff, Allison N., Shimony, Joshua S., Hershey, Tamara, Austin, P., Beato, B., Bihun, E., Doty, T., Earhart, G., Eisenstein, S., Hoekel, J., Karzon, R., Licis, A., Manwaring, L., Paciorkowski, A. R., Pepino de Gruev, Y., Permutt, A., Pickett, K., Ranck, S., Reiersen, A., Tychsen, L., Viehoever, A., Wasson, J., White, N. H.
المصدر: Scientific Reports ; volume 6, issue 1 ; ISSN 2045-2322
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/srep21167Test
https://www.nature.com/articles/srep21167.pdfTest
https://www.nature.com/articles/srep21167Test -
7دورية أكاديمية
المؤلفون: Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M.
المصدر: American Journal of Human Genetics, 108, 2, pp. 346-356
مصطلحات موضوعية: Neuroinformatics, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest; https://hdl.handle.net/2066/231687Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://hdl.handle.net/2066/231687Test
https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest -
8دورية أكاديمية
المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., Mcwalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.
المساهمون: Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Université de Lausanne = University of Lausanne (UNIL), Washington University in Saint Louis (WUSTL), GeneDx Gaithersburg, MD, USA, Université Bourgogne Franche-Comté COMUE (UBFC), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Groupe Hospitalier Bretagne Sud (GHBS), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Ambry Genetics Aliso Viejo, CA, USA, University of Kansas Lawrence (KU), Maastricht University Maastricht
المصدر: ISSN: 1018-4813.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: hal-03131485; https://hal.science/hal-03131485Test
الإتاحة: https://hal.science/hal-03131485Test
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9دورية أكاديمية
المؤلفون: El-Hattab, A. W., Fang, P., Jin, W., Hughes, J. R., Gibson, J. B., Patel, G. S., Grange, D. K., Manwaring, L. P., Patel, A., Stankiewicz, P., Cheung, S. W.
المصدر: Journal of Medical Genetics ; volume 48, issue 12, page 840-850 ; ISSN 0022-2593 1468-6244
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10مؤتمر
المؤلفون: Katti, R., Manwaring, L.
المصدر: Proceedings of the 22nd Annual Workshop: Microprogramming & Microarchitecture; Aug1989, p122-126, 5p
