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1دورية أكاديمية
المؤلفون: Jansen, S, Hoischen, A, Coe, BP, Carvill, GL, Van Esch, H, Bosch, DGM, Andersen, UA, Baker, C, Bauters, M, Bernier, RA, van Bon, BW, Claahsen-van der Grinten, HL, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, MJ, Marcelis, C, McKenzie, F, Monin, ML, Nava, C, Schuurs-Hoeijmakers, JH, Pfundt, R, Steehouwer, M, Stevens, SJC, Stumpel, CT, Vansenne, F, Vinci, M, van de Vorst, M, de Vries, P, Witherspoon, K, Veltman, JA, Brunner, HG, Mefford, HC, Romano, C, Vissers, LELM, Eichler, EE, de Vries, BBA
المصدر: European journal of human genetics : EJHG. 26(1):54-63
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Dingemans, A., Hinne, M., Truijen, K., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B., Jonis, N., Ockeloen, C., Vulto-van Silfhout, A., Kleefstra, T., Koolen, D., Campeau, P., Palmer, E., Van Esch, H., Lyon, G., Alkuraya, F., Rauch, A., Marom, R., Baralle, D., Van der Sluijs, P., Santen, G., Kooy, R., Van Gerven, M., Vissers, L., De Vries, B.
المصدر: Nature Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000D-91D4-FTest; http://hdl.handle.net/21.11116/0000-000D-91D7-CTest; http://hdl.handle.net/21.11116/0000-000D-E5D8Test-D
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3دورية أكاديمية
المؤلفون: Morison, L., Meffert, E., Stampfer, M., Steiner-Wilke, I., Vollmer, B., Schulze, K., Briggs, T., Braden, R., Vogel, A., Thompson-Lake, D., Patel, C., Blair, E., Goel, H., Turner, S., Moog, U., Riess, A., Liegeois, F., Koolen, D., Amor, D., Kleefstra, T., Fisher, S., Zweier, C., Morgan, A.
المصدر: Journal of Medical Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000B-3C69Test-D; http://hdl.handle.net/21.11116/0000-000D-7473-FTest
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4دورية أكاديمية
المؤلفون: Linda K., Lewerissa E. I., Verboven A. H. A., Gabriele M., Frega M., Klein Gunnewiek T. M., Devilee L., Ulferts E., Hommersom M., Oudakker A., Schoenmaker C., van Bokhoven H., Schubert D., Testa G., Koolen D. A., de Vries B. B. A., Nadif Kasri N.
المساهمون: K. Linda, E.I. Lewerissa, A.H.A. Verboven, M. Gabriele, M. Frega, T.M. Klein Gunnewiek, L. Devilee, E. Ulfert, M. Hommersom, A. Oudakker, C. Schoenmaker, H. van Bokhoven, D. Schubert, G. Testa, D.A. Koolen, B.B.A. de Vrie, N. Nadif Kasri
مصطلحات موضوعية: Autophagy, iPSC, Koolen-de Vries syndrome, MTOR, neuronal development, reactive oxygen specie, synaptic function, Settore BIO/11 - Biologia Molecolare, Settore BIO/13 - Biologia Applicata, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia, Settore MED/04 - Patologia Generale, Settore MED/08 - Anatomia Patologica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34286667; info:eu-repo/semantics/altIdentifier/wos/WOS:000675350800001; volume:18; issue:2; firstpage:423; lastpage:442; numberofpages:20; journal:AUTOPHAGY; https://hdl.handle.net/2434/919441Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111418225
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5دورية أكاديمية
المؤلفون: Manole, A., Efthymiou, S., O'Connor, E., Mendes, M. I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M. R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C. S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Nuzhat, R., Ilyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L. B., Benyekhlef, K., Aslanger, A. D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K. M., Wang, L., Rasim, R. O., Paracha, S. A., Sarwar, M. T., Jenkins, D., Synaps group, Aguennouz, M., Di Rosa, G., Ahmed, J, Santoni, F. A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I. M., Guillen Sacoto, M., Si, Y., Telegrafi, A., Andrews, M. V., Baldridge, D., Gabriel, H., Mohr, J., Oehl-Jaschkowitz, B., Debard, S., Senger, B., Fischer, F., van Ravenwaaij, C., Fock, A. J., Stevens, S. J. C., Bahler, J., Nasar, A., Mantovani, J. F., Manzur, A., Sarkozy, A., Smith, D. E. C., Salomons, G. S., Ahmed, Z. M., Riazuddin, S., Usmani, M. A., Seibt, A., Ansar, M., Antonarakis, S. E., Vincent, J. B., Ayub, M., Grimmel, M., Jelsig, A. M., Hjortshøj, T. D., Karstensen, H. G., Hummel, M., Haack, T. B., Jamshidi, Y., Distelmaier, F., Horvath, R., Gleeson, J. G., Becker, H., Mandel, J. -L., Koolen, D. A., Houlden, H.
المساهمون: Manole, A., Efthymiou, S., O'Connor, E., Mendes, M. I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M. R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C. S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Nuzhat, R., Ilyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L. B., Benyekhlef, K., Aslanger, A. D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K. M., Wang, L., Rasim, R. O., Paracha, S. A., Sarwar, M. T., Jenkins, D., Synaps, Group, Aguennouz, M., Di Rosa, G., Ahmed, J, Santoni, F. A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I. M., Guillen Sacoto, M., Si, Y., Telegrafi, A., Andrews, M. V., Baldridge, D., Gabriel, H., Mohr, J., Oehl-Jaschkowitz, B., Debard, S., Senger, B., Fischer, F., van Ravenwaaij, C., Fock, A. J., Stevens, S. J. C., Bahler, J., Nasar, A., Mantovani, J. F., Manzur, A., Sarkozy, A., Smith, D. E. C., Salomons, G. S., Ahmed, Z. M., Riazuddin, S., Usmani, M. A., Seibt, A., Ansar, M., Antonarakis, S. E., Vincent, J. B., Ayub, M., Grimmel, M., Jelsig, A. M., Hjortshøj, T. D., Karstensen, H. G., Hummel, M., Haack, T. B., Jamshidi, Y., Distelmaier, F., Horvath, R., Gleeson, J. G., Becker, H., Mandel, J. -L., Koolen, D. A., Houlden, H.
مصطلحات موضوعية: aminoacyl-tRNA synthetase, developmental delay, epilepsy, neurodevelopment, neuropathy, next generation sequencing, Allele, Amino Acyl-tRNA Synthetase, Aspartate-tRNA Ligase, Cell Line, Female, Gain of Function Mutation, Genetic Predisposition to Disease, Human, Loss of Function Mutation, Male, Neurodevelopmental Disorder, Pedigree, RNA, Transfer, Amino Acyl, Stem Cells
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32738225; info:eu-repo/semantics/altIdentifier/wos/WOS:000558491800011; volume:107; issue:2; firstpage:311; lastpage:324; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11570/3198993Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088934445
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6دورية أكاديمية
المؤلفون: Van Der Donk, R, Jansen, S, Schuurs-Hoeijmakers, J, Koolen, D, Goltstein, L, Hoischen, A, Brunner, H, Kemmeren, P, Nellaker, C, Vissers, L, De Vries, B, Hehir-Kwa, J
العلاقة: https://ora.ox.ac.uk/objects/uuid:6bec444b-d4f4-434c-9664-949137052098Test; https://doi.org/10.1038/s41436-018-0404-yTest
الإتاحة: https://doi.org/10.1038/s41436-018-0404-yTest
https://ora.ox.ac.uk/objects/uuid:6bec444b-d4f4-434c-9664-949137052098Test -
7دورية أكاديمية
المؤلفون: Fitzgerald, Mark P., Fiannacca, Martina, Smith, Douglas M., Gertler, Tracy S., Gunning, Boudewijn, Syrbe, Steffen, Verbeek, Nienke, Stamberger, Hannah, Weckhuysen, Sarah, Ceulemans, Berten, Schoonjans, An Sofie, Rossi, Massimiliano, Demarquay, Geneviève, Lesca, Gaetan, Olofsson, Kern, Koolen, D. A., Hornemann, Frauke, Baulac, Stephanie, Rubboli, Guido, Minks, Kelly Q., Lee, Bohoon, Helbig, Ingo, Dlugos, Dennis, Møller, Rikke S., Bearden, David
المصدر: Fitzgerald , M P , Fiannacca , M , Smith , D M , Gertler , T S , Gunning , B , Syrbe , S , Verbeek , N , Stamberger , H , Weckhuysen , S , Ceulemans , B , Schoonjans , A S , Rossi , M , Demarquay , G , Lesca , G , Olofsson , K , Koolen , D A , Hornemann , F , Baulac , S , Rubboli , G , Minks , K Q , Lee , B , Helbig , I , Dlugos , D , Møller ....
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/20977da4-a755-449e-93a7-504a333309acTest
الإتاحة: https://doi.org/10.1007/s13311-019-00739-yTest
https://portal.findresearcher.sdu.dk/da/publications/20977da4-a755-449e-93a7-504a333309acTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694367/pdf/13311_2019_Article_739.pdfTest -
8دورية أكاديمية
المؤلفون: Tatton-Brown, K, Zachariou, A, Loveday, C, Renwick, A, Mahamdallie, S, Aksglaede, L, Baralle, D, Barge-Schaapveld, D, Blyth, M, Bouma, M, Breckpot, J, Crabb, B, Dabir, T, Cormier-Daire, V, Fauth, C, Fisher, R, Gener, B, Goudie, D, Homfray, T, Hunter, M, Jorgensen, A, Kant, SG, Kirally-Borri, C, Koolen, D, Kumar, A, Labilloy, A, Lees, M, Marcelis, C, Mercer, C, Mignot, C, Miller, K, Neas, K, Newbury-Ecob, R, Pilz, DT, Posmyk, R, Prada, C, Ramsey, K, Randolph, LM, Selicorni, A, Shears, D, Suri, M, Temple, IK, Turnpenny, P, Val Maldergem, L, Varghese, V, Veenstra-Knol, HE, Yachelevich, N, Yates, L, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Rahman, N
المساهمون: Zachariou, Anna, Rahman, Sabera
مصطلحات موضوعية: Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study
وصف الملف: Electronic-eCollection; ?; application/pdf
العلاقة: Wellcome open research, 2018, 3 pp. 46 - ?; https://repository.icr.ac.uk/handle/internal/3119Test
الإتاحة: https://doi.org/10.12688/wellcomeopenres.14430.1Test
https://repository.icr.ac.uk/handle/internal/3119Test -
9
المؤلفون: Boldrini, A., Koolen, D., Crijns-Graus, W., Broek, M.V.D., Energy, Resources & Technological Change, Energy and Resources
المساهمون: Energy, Resources & Technological Change, Energy and Resources
المصدر: 18th International Conference on the European Energy Market (EEM), 1
STARTPAGE=1;TITLE=18th International Conference on the European Energy Market (EEM)مصطلحات موضوعية: Demand response, flexibility, electricity markets, iron and steel industry, green hydrogen, direct reduction of iron
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3622ee4195ed9a3c30cc9103b0431c0Test
https://doi.org/10.1109/eem54602.2022.9921013Test -
10دورية أكاديمية
المؤلفون: Tatton-Brown, K, Zachariou, A, Loveday, C, Renwick, A, Mahamdallie, S, Aksglaede, L, Baralle, D, Barge-Schaapveld, D, Blyth, M, Bouma, M, Breckpot, J, Crabb, B, Dabir, T, Cormier-Daire, V, Fauth, C, Fisher, R, Gener, B, Goudie, D, Homfray, T, Hunter, M, Jorgensen, A, Kant, SG, Kirally-Borri, C, Koolen, D, Kumar, A, Labilloy, A, Lees, M, Marcelis, C, Mercer, C, Mignot, C, Miller, K, Neas, K, Newbury-Ecob, R, Pilz, DT, Posmyk, R, Prada, C, Ramsey, K, Randolph, LM, Selicorni, A, Shears, D, Suri, M, Temple, IK, Turnpenny, P, Val Maldergem, L, Varghese, V, Veenstra-Knol, HE, Yachelevich, N, Yates, L, Clinical Assessment of the Utility of Sequencing and Evaluation, Deciphering Developmental Disorders (DDD) Study, Rahman, N
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdfTest; Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; et al. Tatton-Brown, K; Zachariou, A; Loveday, C; Renwick, A; Mahamdallie, S; Aksglaede, L; Baralle, D; Barge-Schaapveld, D; Blyth, M; Bouma, M; Breckpot, J; Crabb, B; Dabir, T; Cormier-Daire, V; Fauth, C; Fisher, R; Gener, B; Goudie, D; Homfray, T; Hunter, M; Jorgensen, A; Kant, SG; Kirally-Borri, C; Koolen, D; Kumar, A; Labilloy, A; Lees, M; Marcelis, C; Mercer, C; Mignot, C; Miller, K; Neas, K; Newbury-Ecob, R; Pilz, DT; Posmyk, R; Prada, C; Ramsey, K; Randolph, LM; Selicorni, A; Shears, D; Suri, M; Temple, IK; Turnpenny, P; Val Maldergem, L; Varghese, V; Veenstra-Knol, HE; Yachelevich, N; Yates, L; Clinical Assessment of the Utility of Sequencing and Evaluation; Deciphering Developmental Disorders (DDD) Study; Rahman, N (2018) The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res, 3. p. 46. ISSN 2398-502X https://doi.org/10.12688/wellcomeopenres.14430.1Test SGUL Authors: Tatton-Brown, Katrina Louise
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