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1دورية أكاديمية
المؤلفون: Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L., Cohen, S., Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Khokha, M. K., Bönnemann, C. G., Lucas, C. L., Lakhani, S. A.
مصطلحات موضوعية: Creld1, developmental delay, epilepsy, hypotonia
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(23)01039-0; Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, et al. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:101023.; Genetics in medicine; https://hdl.handle.net/11287/623073Test
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2دورية أكاديمية
المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, DeVriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, AM, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Yvette, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V
المصدر: Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , AK , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , SG , Chung , WK , DeVriendt , K , Holder , SE , Jewett , T , Baldwin , LM , Wilson , WG , Towner , S , Srivastava , S , Johnson , HF , Daumer-Haas , C ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
الإتاحة: https://doi.org/10.1038/s41436-020-00981-2Test
https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39eTest
http://www.scopus.com/inward/record.url?scp=85093843292&partnerID=8YFLogxKTest
https://www.nature.com/articles/s41436-020-00981-2.pdfTest -
3مؤتمر
المؤلفون: Towner, S.
المساهمون: University of Maryland Global Campus, DBA
مصطلحات موضوعية: Management, Remote Work, Higher Education
وصف الملف: Video
العلاقة: Student Opportunities to Advance Research & Scholarship (SOARS) - DBA Program; Poster presented at the 2023 Student Opportunities to Advance Research & Scholarship (S.O.A.R.S.) event.; http://cdm16240.contentdm.oclc.org/u?/p15434coll5,1434Test
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4دورية أكاديمية
المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, Devriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, A-M, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Y, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V
المصدر: Genetics in Medicine (2020) (In press).
مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10114644Test/
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5دورية 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 -
6دورية أكاديمية
المؤلفون: AlAbdi, L., Desbois, M., Rusnac, D.V., Sulaiman, R.A., Rosenfeld, J.A., Lalani, S., Murdock, D.R., Burrage, L.C., Undiagnosed Diseases Network, Billie Au, P.Y., Towner, S., Wilson, W.G., Wong, L., Brunet, T., Strobl-Wildemann, G., Burton, J.E., Hoganson, G., McWalter, K., Begtrup, A., Zarate, Y.A., Christensen, E.L., Opperman, K.J., Giles, A.C., Helaby, R., Kania, A., Zheng, N., Grill, B., Alkuraya, F.S.
المصدر: Brain, DOI:10.1093/brain/awac364 (2022)
مصطلحات موضوعية: Mycbp2, Phr1, Corpus Callosum, Epilepsy, Habituation, Neurodevelopmental Disorder
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36200388; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altIdentifier/pissn/0006-8950; info:eu-repo/semantics/altIdentifie; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66346Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156
الإتاحة: https://doi.org/10.1093/brain/awac364Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66346Test -
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المؤلفون: AlAbdi, L., Desbois, M., Rusnac, D.V., Sulaiman, R.A., Rosenfeld, J.A., Lalani, S., Murdock, D.R., Burrage, L.C., Undiagnosed Diseases Network, Billie Au, P.Y., Towner, S., Wilson, W.G., Wong, L., Brunet, T., Strobl-Wildemann, G., Burton, J.E., Hoganson, G., McWalter, K., Begtrup, A., Zarate, Y.A., Christensen, E.L., Opperman, K.J., Giles, A.C., Helaby, R., Kania, A., Zheng, N., Grill, B., Alkuraya, F.S.
المصدر: Brain, DOI: 10.1093/brain/awac364 (2022)
مصطلحات موضوعية: Neurology (clinical), Mycbp2, Phr1, Corpus Callosum, Epilepsy, Habituation, Neurodevelopmental Disorder
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e781ace9ee46e63ab2e35902c943990fTest
https://pubmed.ncbi.nlm.nih.gov/36200388Test -
8دورية أكاديمية
المؤلفون: Towner, S.
المصدر: Bioscience Horizons ; volume 3, issue 1, page 96-104 ; ISSN 1754-7431
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology
الإتاحة: https://doi.org/10.1093/biohorizons/hzq011Test
http://academic.oup.com/biohorizons/article-pdf/3/1/96/5031707/hzq011.pdfTest -
9دورية أكاديمية
المساهمون: Malerba, N, Towner, S, Keating, K, Squeo, Gm, Wilson, W, Merla, G
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000453107200001; volume:9; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11588/873947Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074323856
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10دورية أكاديمية
المؤلفون: Feitz, A., Schroder, I., Phillips, F., Coates, T., Negandhi, K., Day, S., Luhar, A., Bhatia, S., Edwards, G., Hrabar, S., Hernandez, E., Wood, B., Naylor, T., Kennedy, M., Hamilton, M., Hatch, M., Malos, J., Kochanek, M., Reid, P., Wilson, J., Deutscher, N., Zegelin, S., Vincent, R., White, S., Ong, C., George, S., Maas, P., Towner, S., Wokker, N., Griffith, D.
المصدر: Feitz, A., Schroder, I., Phillips, F., Coates, T., Negandhi, K., Day, S., Luhar, A., Bhatia, S., Edwards, G., Hrabar, S., Hernandez, E., Wood, B., Naylor, T., Kennedy, M., Hamilton, M., Hatch, M., Malos, J., Kochanek, M., Reid, P., Wilson, J., Deutscher, N., Zegelin, S., Vincent, R., White, S., Ong, C., George, S. , Maas, P., Towner, S., Wokker, N. and Griffith, D. (2018) The Ginninderra CH4 and CO2 release experiment: An evaluation of gas detection and quantification techniques. International Journal of Greenhouse Gas Control, 70 . pp. 202-224.
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/66388Test/; full_text_status:public
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