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1دورية أكاديمية
المؤلفون: Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, L., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Jansen, S., Bon, B.W. van, Jonis, N., Ockeloen, C.W., Silfhout, A.V.V.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, B.B.A. de
المصدر: Nature Genetics
وصف الملف: application/pdf
العلاقة: https://www.nature.com/articles/s41588-023-01469-wTest; lumc-id: 183893218; https://hdl.handle.net/1887/3764286Test
الإتاحة: https://doi.org/10.1038/s41588-023-01469-wTest
https://hdl.handle.net/1887/3764286Test
https://www.nature.com/articles/s41588-023-01469-wTest -
2دورية أكاديمية
المؤلفون: Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J.A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S.W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R.L., Mari, F., Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A.L., Caberg, J.H., Bucan, M., Zeesman, S., Nowaczyk, MJM, Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R.F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D.J., Andrieux, J., Girirajan, S.
المصدر: Genetics in medicine, vol. 21, no. 4, pp. 816-825
مصطلحات موضوعية: Autistic Disorder/genetics, Autistic Disorder/physiopathology, Cell Adhesion Molecules, Neuronal/genetics, Chromosomes, Human, Pair 16/genetics, Cognition/physiology, DNA Copy Number Variations/genetics, Female, Gene Expression Regulation/genetics, Genetic Background, Genetic Carrier Screening, Humans, Male, Methyltransferases/genetics, Nerve Tissue Proteins/genetics, Parents, Pedigree, Phenotype, Proteins/genetics, Sequence Deletion/genetics, Siblings, 16p11.2 deletion, CNV, autism, modifier, phenotypic variability
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30190612; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8CCC78BF94776; https://serval.unil.ch/notice/serval:BIB_8CCC78BF9477Test; urn:issn:1098-3600; https://serval.unil.ch/resource/serval:BIB_8CCC78BF9477.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8CCC78BF94776Test
الإتاحة: https://doi.org/10.1038/s41436-018-0266-3Test
https://serval.unil.ch/notice/serval:BIB_8CCC78BF9477Test
https://serval.unil.ch/resource/serval:BIB_8CCC78BF9477.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8CCC78BF94776Test -
3دورية أكاديمية
المؤلفون: Loviglio, M.N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S.M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Hippolyte, L., Maillard, A.M., Van Dijck, A., Kooy, R.F., Sanlaville, D., Rosenfeld, J.A., Shaffer, L.G., Andrieux, J., Marshall, C., Scherer, S.W., Shen, Y., Gusella, J.F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E.T., Deplancke, B., Beckmann, J.S., Rougemont, J., Jacquemont, S., Reymond, A.
المساهمون: 2p15 Consortium, 16p11.2 Consortium, Loviglio, M.N., Männik, K., van der Werf, I., Giannuzzi, G., Zazhytska, M., Gheldof, N., Migliavacca, E., Alfaiz, A.A., Roberts-Caldeira, I., Hippolyte, L., Maillard, A.M., Ferrarini, A., Butschi, F.N., Conrad, B., Addor, M.C., Belfiore, M., Roetzer, K., Dijck, A.V., Blaumeiser, B., Kooy, F., Roelens, F., Dheedene, A., Chiaie, B.D., Menten, B., Oostra, A., Caberg, J.H., Carter, M., Kellam, B., Stavropoulos, D.J., Marshall, C., Scherer, S.W., Weksberg, R., Cytrynbaum, C., Bassett, A., Lowther, C., Gillis, J., MacKay, S., Bache, I., Ousager, L.B., Smerdel, M.P., Graakjaer, J., Kjaergaard, S., Metspalu, A., Mathieu, M., Bonneau, D., Guichet, A., Parent, P., Férec, C., Gerard, M., Plessis, G., Lespinasse, J., Masurel, A., Marle, N., Faivre, L., Callier, P., Layet, V., Meur, N.L., Le Goff, C., Duban-Bedu, B., Sukno, S., Boute, O., Andrieux, J., Blanchet, P., Geneviève, D., Puechberty, J., Schneider, A., Leheup, B., Jonveaux, P., Mercier, S., David, A., Le Caignec, C., de Pontual, L., Pipiras, E., Jacquette, A., Keren, B., Gilbert-Dussardier, B., Bilan, F., Goldenberg, A., Chambon, P., Toutain, A., Till, M., Sanlaville, D., Leube, B., Royer-Pokora, B., Grabe, H.J., Schmidt, C.O., Schurmann, C., Homuth, G., Thorleifsson, G., Thorsteinsdottir, U., Bernardini, L., Novelli, A., Micale, L., Merla, G., Zollino, M., Mari, F., Rizzo, C.L., Renieri, A.
المصدر: Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/eissn/1476-5578; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8773892CB0367; https://serval.unil.ch/notice/serval:BIB_8773892CB036Test; urn:issn:1359-4184; https://serval.unil.ch/resource/serval:BIB_8773892CB036.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8773892CB0367Test
الإتاحة: https://doi.org/10.1038/mp.2016.84Test
https://serval.unil.ch/notice/serval:BIB_8773892CB036Test
https://serval.unil.ch/resource/serval:BIB_8773892CB036.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8773892CB0367Test -
4دورية أكاديمية
المؤلفون: Verberne, E.A., Goh, S., England, J., Ginkel, M. van, Rafael-Croes, L., Maas, S., Polstra, A., Zarate, Y.A., Bosanko, K.A., Pechter, K.B., Bedoukian, E., Izumi, K., Chaudhry, A., Robin, N.H., Boothe, M., Lippa, N.C., Aggarwal, V., Vivo, D.C. De, Lehman, A., Study, C., Stockler, S., Bruel, A.L., Isidor, B., Lemons, J., Rodriguez-Buritica, D.F., Richmond, C.M., Stark, Z., Agrawal, P.B., Kooy, R.F., Meuwissen, M.E.C., Koolen, D.A., Pfundt, R.P., Lieden, A., Anderlid, B.M., Glatz, D., Mannens, M., Bakshi, M., Mallette, F.A., Haelst, M.M. van, Campeau, P.M.
المصدر: Genetics in Medicine, 23, 2, pp. 374-383
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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5دورية أكاديمية
المؤلفون: Churchill, G.A., Airey, D.C., Allayee, H., Angel, J.M., Attie, A.D., Beatty, J., Beavis, W.D., Belknap, J.K., Bennett, B., Berrettini, W., Bleich, A., Bogue, M., Broman, K.W., Buck, K.J., Buckler, E., Burmeister, M., Chesler, E.J., Cheverud, J.M., Clapcote, S., Cook, M.N., Cox, R.D., Crabbe, J.C., Crusio, W.E., Darvasi, A., Deschepper, C.F., Doerge, R.W., Farber, C.R., Forejt, J., Gaile, D., Garlow, S.J., Geiger, H., Gershenfeld, H., Gordon, T., Gu, J., Gu, W., Haan, G. de, Hayes, N.L., Heller, C., Himmelbauer, H., Hitzemann, R., Hunter, K., Hsu, H.-C., Iraqi, F.A., Ivandic, B., Jacob, H.J., Jansen, R.C., Jepsen, K.J., Johnson, D.K., Johnson, T.E., Kempermann, G., Kendziorski, C., Kotb, M., Kooy, R.F., Llamas, B., Lammert, F., Lassalle, J.M., Lowenstein, P.R., Lu, L., Lusis, A., Manly, K.F., Marcucio, R., Matthews, D., Medrano, J.F., Miller, D.R., Mittleman, G., Mock, B.A., Mogil, J.S., Montagutelli, X., Morahan, G., Morris, D.G., Mott, R., Nadeau, J.H., Nagase, H., Nowakowski, R.S., O'Hara B.F., Osadchuk, A.V., Page, G.P., Paigen, B., Paigen, K., Palmer, A.A., Pan, H.J., Peltonen-Palotie, L., Peirce, J., Pomp, D., Pravenec, M., Prows, D.R., Qi, Z., Reeves, R.H., Roder, J., Rosen, G.D., Schadt, E.E., Schalkwyk, L.C., Seltzer, Z., Shimomura, K., Shou, S., Sillanpää, Mikko J., Siracusa, L.D., Snoeck, H.W., Spearow, J.L., Svenson, K., Tarantino, L.M., Threadgill, D., Toth, L.A., Valdar, W., Pardo-Manuel de Villena, F., Warden, C., Whatley, S., Williams, R.W., Wiltshire, T., Yi, N., Zhang, D., Zhang, M., Zou, F.
المصدر: Nature Genetics
مصطلحات موضوعية: genetics
العلاقة: Churchill, G.A., Airey, D.C., Allayee, H. et al. 2004. The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nature Genetics 36(11): 1133 - 1137.; https://hdl.handle.net/10568/35319Test; https://doi.org/10.1038/ng1104-1133Test
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6دورية أكاديمية
المؤلفون: Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E.
المصدر: Nature Communications, 11, 1
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/229260/229260.pdfTest; https://hdl.handle.net/2066/229260Test
الإتاحة: https://doi.org/10.1038/s41467-020-18723-yTest
https://hdl.handle.net/2066/229260Test
https://repository.ubn.ru.nl//bitstream/handle/2066/229260/229260.pdfTest -
7دورية أكاديمية
المؤلفون: Werf, I.M. van der, Jansen, S, Vries, P.F. de, Gerstmans, A., Vorst, M. van de, Dijck, A. Van, Vries, B.B.A. de, Gilissen, C., Hoischen, A., Vissers, L.E.L.M., Kooy, R.F., Vandeweyer, G.
المصدر: European Journal of Human Genetics, 28, 12, pp. 1726-1733
مصطلحات موضوعية: Radboudumc 4: lnfectious Diseases and Global Health 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
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8دورية أكاديمية
المؤلفون: Ciolfi, A., Aref-Eshghi, E., Pizzi, S., Pedace, L., Miele, E., Kerkhof, J., Flex, E., Martinelli, S., Radio, F.C., Ruivenkamp, C.A.L., Santen, G.W.E., Bijlsma, E., Barge-Schaapveld, D., Ounap, K., Siu, V.M., Kooy, R.F., Dallapiccola, B., Sadikovic, B., Tartaglia, M.
المصدر: Clinical Epigenetics
مصطلحات موضوعية: DNA methylation, Episignature, Rahman syndrome, Chromatin remodeling, Replicative senescence, Intellectual disability, Accelerated aging
وصف الملف: application/pdf
العلاقة: https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-019-0804-0Test; lumc-id: 112022711; https://hdl.handle.net/1887/3184940Test
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9دورية أكاديمية
المؤلفون: Leegwater, P.A.J., Strating, M., Murphy, N.B., Kooy, R.F., Vliet, P.C. van der, Overdulve, J.P.
المصدر: Nucleic Acids Research
مصطلحات موضوعية: trypanosoma brucei, dna, genes, animal diseases
وصف الملف: p. 6441-6447
العلاقة: Nucleic Acids Research;19: 6441-6447; https://hdl.handle.net/10568/29288Test; https://doi.org/10.1093/nar/19.23.6441Test
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10دورية أكاديمية
المؤلفون: Kooy, R.F., Hirumi, H., Moloo, S.K., Nantulya, V.M., Duke, P., Linden, P.M. van der, Duijndam, W.A.I., Janse, C.J., Overdulve, J.P.
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: trypanosoma, animal diseases
وصف الملف: p. 5469-5472
العلاقة: Proceedings of the National Academy of Sciences of the USA;86: 5469-5472; https://hdl.handle.net/10568/29540Test
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