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1دورية أكاديمية
المؤلفون: Guo, H, Li, Y, Shen, L, Wang, TY, Jia, XB, Liu, LJ, Xu, T, Ou, MZ, Hoekzema, K, Wu, HD, Gillentine, MA, Liu, CY, Ni, HL, Peng, PW, Zhao, RJ, Zhang, Y, Phornphutkul, C, Stegmann, APA, Prada, CE, Hopkin, RJ, Shieh, JT, McWalter, K, Monaghan, KG, van Hasselt, PM, van Gassen, K, Bai, T, Long, M, Han, L, Quan, YT, Chen, ML, Zhang, YW, Li, KK, Zhang, QM, Tan, JQ, Zhu, TF, Liu, YN, Pang, N, Peng, J, Scott, DA, Lalani, SR, Azamian, M, Mancini, GMS, Adams, DJ, Kvarnung, M, Lindstrand, A, Nordgren, A, Pevsner, J, Osei-Owusu, IA, Romano, C, Calabrese, G, Galesi, O, Gecz, J, Haan, E, Ranells, J, Racobaldo, M, Nordenskjold, M, Madan-Khetarpal, S, Sebastian, J, Ball, S, Zou, XB, Zhao, JP, Hu, ZM, Xia, F, Liu, PF, Rosenfeld, JA, de Vries, BBA, Bernier, RA, Xu, ZQD, Li, HH, Xie, W, Hufnagel, RB, Eichler, EE, Xia, K
المصدر: Science advances. 5(9)
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.
المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP
مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development
وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf
العلاقة: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177Test
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3دورية أكاديمية
المؤلفون: Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah
المصدر: Cell Death & Disease; May2024, Vol. 15 Issue 5, p1-15, 15p
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4دورية أكاديمية
المؤلفون: Janssen, B. D. E., van den Boogaard, M. H., Lichtenbelt, K., Seaby, E. G., Stals, K., Ellard, S., Newbury-Ecob, R., Dixit, A., Roht, L., Pajusalu, S., Õunap, K., Firth, H. V., Buckley, M., Wilson, M., Roscioli, T., Tidwell, T., Mao, R., Ennis, S., Holwerda, S. J., van Gassen, K., van Jaarsveld, R. H.
مصطلحات موضوعية: Tfiid, human genetics, mendelian disorders, neurodevelopmental disorder
العلاقة: https://doi.org/10.1002/humu.24444Test; Hum Mutat. 2022 Jul 29. doi:10.1002/humu.24444.; https://rde.dspace-express.com/handle/11287/622579Test; Human mutation
الإتاحة: https://doi.org/10.1002/humu.24444Test
https://rde.dspace-express.com/handle/11287/622579Test -
5دورية أكاديمية
المؤلفون: Janssen, E., Oosterloo, M., Rubio-Gozalbo, E., van Gassen, K., Nicolai, J.
المصدر: Janssen , E , Oosterloo , M , Rubio-Gozalbo , E , van Gassen , K & Nicolai , J 2021 , ' Teaching Video NeuroImage: Improvement in Motor Development After Start of Levodopa in Tyrosine Hydroxylase Deficiency ' , Neurology , vol. 97 , no. 5 , pp. E540-E540 . https://doi.org/10.1212/WNL.0000000000011757Test
العلاقة: https://cris.maastrichtuniversity.nl/en/publications/54ccb098-2a54-442f-9780-c1a2633be1c2Test
الإتاحة: https://doi.org/10.1212/WNL.0000000000011757Test
https://cris.maastrichtuniversity.nl/en/publications/54ccb098-2a54-442f-9780-c1a2633be1c2Test -
6دورية أكاديمية
المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., de Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.
المساهمون: Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden (KUH), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: ISSN: 1756-994X ; Genome Medicine ; https://hal.univ-lille.fr/hal-04219731Test ; Genome Medicine, 2021, Genome Medicine, 13 (63), ⟨10.1186/s13073-021-00870-6⟩.
مصطلحات موضوعية: Gene families, Cortex development, hnRNPs, Neurodevelopmental disorders, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33874999; hal-04219731; https://hal.univ-lille.fr/hal-04219731Test; https://hal.univ-lille.fr/hal-04219731/documentTest; https://hal.univ-lille.fr/hal-04219731/file/s13073-021-00870-6.pdfTest; PUBMED: 33874999
الإتاحة: https://doi.org/10.1186/s13073-021-00870-6Test
https://hal.univ-lille.fr/hal-04219731Test
https://hal.univ-lille.fr/hal-04219731/documentTest
https://hal.univ-lille.fr/hal-04219731/file/s13073-021-00870-6.pdfTest -
7دورية أكاديمية
المؤلفون: Datta, AN, Bahi-Buisson, N, Bienvenu, T, Buerki, SE, Gardiner, F, Cross, JH, Heron, B, Kaminska, A, Korff, CM, Lepine, A, Lesca, G, McTague, A, Mefford, HC, Mignot, C, Milh, M, Piton, A, Pressler, RM, Ruf, S, Sadleir, LG, de Saint Martin, A, Van Gassen, K, Verbeek, NE, Ville, D, Villeneuve, N, Zacher, P, Scheffer, IE, Lemke, JR
العلاقة: NHMRC/1091593; Datta, A. N., Bahi-Buisson, N., Bienvenu, T., Buerki, S. E., Gardiner, F., Cross, J. H., Heron, B., Kaminska, A., Korff, C. M., Lepine, A., Lesca, G., McTague, A., Mefford, H. C., Mignot, C., Milh, M., Piton, A., Pressler, R. M., Ruf, S., Sadleir, L. G. ,. Lemke, J. R. (2021). The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. EPILEPSIA, 62 (2), pp.325-334. https://doi.org/10.1111/epi.16761Test.; http://hdl.handle.net/11343/268241Test
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8دورية أكاديمية
المؤلفون: Haijes, H, Koster, M, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G, Lehman, A, Van De Laar, I, Tesselaar, C, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A, Kini, U, Vos, H, Van Es, R, Van Schaik, R, Van Essen, T, Kibaek, M, Taylor, J, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D, Van Gassen, K, Pfundt, R, Falk, M, McCormick, E, Timmers, H, Van Hasselt, P
العلاقة: https://ora.ox.ac.uk/objects/uuid:a38bf334-3015-4933-8183-455bc0548681Test; https://doi.org/10.1016/j.ajhg.2019.06.016Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.06.016Test
https://ora.ox.ac.uk/objects/uuid:a38bf334-3015-4933-8183-455bc0548681Test -
9دورية أكاديمية
المؤلفون: Singh, S., Gupta, A., Zech, M., Sigafoos, A.N., Clark, K.J., Dincer, Y., Wagner, M., Humberson, J.B., Green, S., van Gassen, K., Brandt, T., Schnur, R.E., Millan, F., Si, Y., Mall, V., Winkelmann, J., Gavrilova, R.H., Klee, E.W., Engleman, K., Safina, N.P., Slaugh, R., Bryant, E.M., Tan, W.H., Granadillo, J., Misra, S.N., Schaefer, G.B., Towner, S., Brilstra, E.H., Koeleman, B.P.C.
المصدر: Genet. Med. 22, 1413–1417 (2020)
مصطلحات موضوعية: Developmental Disorder, Epilepsy, Neurodevelopmental Disorder, Nr4a2, Seizures
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32366965; info:eu-repo/semantics/altIdentifier/wos/WOS:000530217700003; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59025Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600
الإتاحة: https://doi.org/10.1038/s41436-020-0815-4Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59025Test -
10دورية أكاديمية
المؤلفون: Flex E., Martinelli S., Van Dijck A., Ciolfi A., Cecchetti S., Coluzzi E., Pannone L., Andreoli C., Radio F. C., Pizzi S., Carpentieri G., Bruselles A., Catanzaro G., Pedace L., Miele E., Carcarino E., Ge X., Chijiwa C., Lewis M. E. S., Meuwissen M., Kenis S., Van der Aa N., Larson A., Brown K., Wasserstein M. P., Skotko B. G., Begtrup A., Person R., Karayiorgou M., Roos J. L., Van Gassen K. L., Koopmans M., Bijlsma E. K., Santen G. W. E., Barge-Schaapveld D. Q. C. M., Ruivenkamp C. A. L., Hoffer M. J. V., Lalani S. R., Streff H., Craigen W. J., Graham B. H., van den Elzen A. P. M., Kamphuis D. J., Ounap K., Reinson K., Pajusalu S., Wojcik M. H., Viberti C., Di Gaetano C., Bertini E., Petrucci S., De Luca A., Rota R., Ferretti E., Matullo G., Dallapiccola B., Sgura A., Walkiewicz M., Kooy R. F., Tartaglia M.
المساهمون: Flex E., Martinelli S., Van Dijck A., Ciolfi A., Cecchetti S., Coluzzi E., Pannone L., Andreoli C., Radio F.C., Pizzi S., Carpentieri G., Bruselles A., Catanzaro G., Pedace L., Miele E., Carcarino E., Ge X., Chijiwa C., Lewis M.E.S., Meuwissen M., Kenis S., Van der Aa N., Larson A., Brown K., Wasserstein M.P., Skotko B.G., Begtrup A., Person R., Karayiorgou M., Roos J.L., Van Gassen K.L., Koopmans M., Bijlsma E.K., Santen G.W.E., Barge-Schaapveld D.Q.C.M., Ruivenkamp C.A.L., Hoffer M.J.V., Lalani S.R., Streff H., Craigen W.J., Graham B.H., van den Elzen A.P.M., Kamphuis D.J., Ounap K., Reinson K., Pajusalu S., Wojcik M.H., Viberti C., Di Gaetano C., Bertini E., Petrucci S., De Luca A., Rota R., Ferretti E., Matullo G., Dallapiccola B., Sgura A., Walkiewicz M., Kooy R.F., Tartaglia M.
مصطلحات موضوعية: accelerated aging, cellular senescence, chromatin compaction, chromatin dynamic, chromatin remodeling, HIST1H1E, linker histone, linker histone H1.4, methylation profiling, replicative senescence
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31447100; info:eu-repo/semantics/altIdentifier/wos/WOS:000484435700005; volume:105; issue:3; firstpage:493; lastpage:508; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/1725913Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071515684; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.07.007Test
http://hdl.handle.net/2318/1725913Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
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