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1دورية 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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2دورية أكاديمية
المؤلفون: Gillentine, MA, Wang, TY, Hoekzema, K, Rosenfeld, J, Liu, PF, Guo, H, Kim, CN, De Vries, BBA, Vissers, LELM, 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, CA, Bhat, G, Cobian, K, Bird, LM, Friedman, J, Wright, MS, Callewaert, B, Petit, F, Mathieu, S, Afenjar, A, Christensen, CK, White, KM, Elpeleg, O, Berger, I, Espineli, EJ, Fagerberg, C, Brasch-Andersen, C, Hansen, LK, 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, LM, Mckee, S, Mirzaa, GM, Muss, C, Pappas, J, Peeters, H, Romano, C, Elia, M, Galesi, O, Simon, MEH, van Gassen, KLI, Simpson, K, Stratton, R, Syed, S, Thevenon, J, Palafoll, IV, Vitobello, A, Bournez, M, Faivre, L, Xia, K, Earl, RK, Nowakowski, T, Bernier, RA, Eichler, EE
المصدر: Genome medicine. 13(1):63
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, JM, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, CC, Zhang, JH, Li, BY, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, YR, Zhu, DN, Zhang, BH, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, Lopez-Giraldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, MG, Retterer, K, Millan, F, Wang, YG, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, inE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, XY, Amor, DJ, Zarnescu, DC, Lu, QS, Xing, QH, Zhu, CL, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC
المصدر: Nature genetics. 52(10):1046
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Happ, HC, Sadleir, LG, Zemel, M, de Valles-Ibáñez, G, Hildebrand, MS, McConkie-Rosell, A, McDonald, M, May, H, Sands, T, Aggarwal, V, Elder, C, Feyma, T, Bayat, A, Møller, RS, Fenger, CD, Klint Nielsen, JE, Datta, AN, Gorman, KM, King, MD, Linhares, ND, Burton, BK, Paras, A, Ellard, S, Rankin, J, Shukla, A, Majethia, P, Olson, RJ, Muthusamy, K, Schimmenti, LA, Starnes, K, Sedláčková, L, Štěrbová, K, Vlčková, M, Laššuthová, P, Jahodová, A, Porter, BE, Couque, N, Colin, E, Prouteau, C, Collet, C, Smol, T, Caumes, R, Vansenne, F, Bisulli, F, Licchetta, L, Person, R, Torti, E, McWalter, K, Webster, R, Gerard, EE, Lesca, G, Szepetowski, P, Scheffer, IE, Mefford, HC, Carvill, GL
العلاقة: pii: WNL.0000000000201492; Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D. ,. Carvill, G. L. (2023). Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology, 100 (6), pp.e603-e615. https://doi.org/10.1212/WNL.0000000000201492Test.; http://hdl.handle.net/11343/339796Test
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5دورية أكاديمية
المؤلفون: Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D., Linhares, N., Burton, B. K., Paras, A., Ellard, S., Rankin, J., Shukla, A., Majethia, P., Olson, R. J., Muthusamy, K., Schimmenti, L. A., Starnes, K., Sedlackova, L., Sterbova, K., Vlckova, M., Lassuthova, P., Jahodova, A., Porter, B. E., Couque, N., Colin, E., Prouteau, C., Collet, C., Smol, T., Caumes, R., Vansenne, F., Bisulli, F., Licchetta, L., Person, R., Torti, E., McWalter, K., Webster, R., Gerard, E. E., Lesca, G., Szepetowski, P., Scheffer, I. E., Mefford, H. C., Carvill, G. L.
العلاقة: http://www.neurology.org/cgi/pmidlookup?view=long&pmid=36307226Test; Neurology. 2022 Oct 28:10.1212/WNL.0000000000201492. doi:10.1212/WNL.0000000000201492.; https://rde.dspace-express.com/handle/11287/622755Test; Neurology
الإتاحة: https://doi.org/10.1212/wnl.0000000000201492Test
https://doi.org/10.1212/WNL.0000000000201492Test
https://rde.dspace-express.com/handle/11287/622755Test -
6دورية أكاديمية
المؤلفون: Carvill G. L., Helbig K. L., Myers C. T., Scala M., Huether R., Lewis S., Kruer T. N., Guida B. S., Bakhtiari S., Sebe J., Tang S., Stickney H., Oktay S. U., Bhandiwad A. A., Ramsey K., Narayanan V., Feyma T., Rohena L. O., Accogli A., Severino M., Hollingsworth G., Gill D., Depienne C., Nava C., Sadleir L. G., Caruso P. A., Lin A. E., Jansen F. E., Koeleman B., Brilstra E., Willemsen M. H., Kleefstra T., Sa J., Mathieu M. -L., Perrin L., Lesca G., Striano P., Casari G., Scheffer I. E., Raible D., Sattlegger E., Capra V., Padilla-Lopez S., Mefford H. C., Kruer M. C.
المساهمون: Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. -L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C., Kruer, M. C.
مصطلحات موضوعية: de novo, dyskinesia, EEF1A2, epilepsy, yeast complementation assay
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000539767900008; volume:41; issue:7; firstpage:1263; lastpage:1279; numberofpages:17; journal:HUMAN MUTATION; http://hdl.handle.net/20.500.11768/108970Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082943012
الإتاحة: https://doi.org/20.500.11768/108970Test
https://doi.org/10.1002/humu.24015Test
https://hdl.handle.net/20.500.11768/108970Test -
7دورية أكاديمية
المؤلفون: Carvill, GL, Helbig, KL, Myers, CT, Scala, M, Huether, R, Lewis, S, Kruer, TN, Guida, BS, Bakhtiari, S, Sebe, J, Tang, S, Stickney, H, Oktay, SU, Bhandiwad, AA, Ramsey, K, Narayanan, V, Feyma, T, Rohena, LO, Accogli, A, Severino, M, Hollingsworth, G, Gill, D, Depienne, C, Nava, C, Sadleir, LG, Caruso, PA, Lin, AE, Jansen, FE, Koeleman, B, Brilstra, E, Willemsen, MH, Kleefstra, T, Sa, J, Mathieu, M-L, Perrin, L, Lesca, G, Striano, P, Casari, G, Scheffer, IE, Raible, D, Sattlegger, E, Capra, V, Padilla-Lopez, S, Mefford, HC, Kruer, MC
العلاقة: Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A. ,. Kruer, M. C. (2020). Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. HUMAN MUTATION, 41 (7), pp.1263-1279. https://doi.org/10.1002/humu.24015Test.; http://hdl.handle.net/11343/275604Test
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8دورية أكاديمية
المؤلفون: Patel, A. D., Berg, A. T., Billinghurst, L., Fain, D., Fecske, E., Feyma, T., Grinspan, Z., Houtrow, A., Kothare, S., Buchhalter, J. R., +7 additional authors
المصدر: Journal Articles
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, TUBEROUS SCLEROSIS COMPLEX, INFANTILE SPASMS, DEVELOPMENTAL DELAY, PRACTICE COMMITTEE, STATUS EPILEPTICUS, AMERICAN ACADEMY, CHRONIC MIGRAINE, CEREBRAL-PALSY, WEST-SYNDROME, ADOLESCENTS, Pediatrics
العلاقة: https://academicworks.medicine.hofstra.edu/publications/4676Test; https://my.hofstra.edu/hofapps/applications/ezproxy/indexMed.jsp?db_proxy=m&&db_url=n.neurology.org/content/90/2/67.longTest
الإتاحة: https://doi.org/10.1212/WNL.0000000000004806Test
https://academicworks.medicine.hofstra.edu/publications/4676Test
https://my.hofstra.edu/hofapps/applications/ezproxy/indexMed.jsp?db_proxy=m&&db_url=n.neurology.org/content/90/2/67.longTest -
9دورية أكاديميةP019 Ipsilesional and contralesional cortical silent period in pediatric stroke: Preliminary reports
المؤلفون: Lixandrao, M.C., Rich, T., Chen, C.-Y., Gillick, B., Stinear, J., Feyma, T.
المصدر: Clinical Neurophysiology ; volume 128, issue 3, page e18-e19 ; ISSN 1388-2457
مصطلحات موضوعية: Physiology (medical), Neurology (clinical), Neurology, Sensory Systems
الإتاحة: https://doi.org/10.1016/j.clinph.2016.10.148Test
https://api.elsevier.com/content/article/PII:S1388245716307246?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S1388245716307246?httpAccept=text/xmlTest -
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المؤلفون: Neul, JL, Glaze, DG, Percy, AK, Feyma, T, Beisang, A, Dinh, T, Suter, B, Anagnostou, E, Snape, M, Horrigan, J, Jones, NE
المصدر: Neul, JL; Glaze, DG; Percy, AK; Feyma, T; Beisang, A; Dinh, T; et al.(2015). Improving Treatment Trial Outcomes for Rett Syndrome. Journal of Child Neurology, 30(13), 1743-1748. doi: 10.1177/0883073815579707. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/8046n7gdTest
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::a7657055ab9d760c821c9f03ee1e0e34Test
http://www.escholarship.org/uc/item/8046n7gdTest