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1دورية أكاديمية
المؤلفون: Perenthaler, E, Nikoncuk, A, Yousefi, S, Berdowski, WM, Alsagob, M, Capo, I, van der Linde, HC, van den Berg, P, Jacobs, EH, Putar, D, Ghazvini, M, Aronica, E, van IJcken, WFJ, de Valk, WG, Medici-van den Herik, E, van Slegtenhorst, M, Brick, L, Kozenko, M, Kohler, JN, Bernstein, JA, Monaghan, KG, Begtrup, A, Torene, R, Al Futaisi, A, Al Murshedi, F, Mani, R, Al Azri, F, Kamsteeg, E-J, Mojarrad, M, Eslahi, A, Khazaei, Z, Darmiyan, FM, Doosti, M, Karimiani, EG, Vandrovcova, J, Zafar, F, Rana, N, Kandaswamy, KK, Hertecant, J, Bauer, P, AlMuhaizea, MA, Salih, MA, Aldosary, M, Almass, R, Al-Quait, L, Qubbaj, W, Coskun, S, Alahmadi, KO, Hamad, MHA, Alwadaee, S, Awartani, K, Dababo, AM, Almohanna, F, Colak, D, Dehghani, M, Mehrjardi, MYV, Gunel, M, Ercan-Sencicek, AG, Passi, GR, Cheema, HA, Efthymiou, S, Houlden, H, Bertoli-Avella, AM, Brooks, AS, Retterer, K, Maroofian, R, Kaya, N, van Ham, TJ, Barakat, TS
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111490/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdfTest; Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; et al. Perenthaler, E; Nikoncuk, A; Yousefi, S; Berdowski, WM; Alsagob, M; Capo, I; van der Linde, HC; van den Berg, P; Jacobs, EH; Putar, D; Ghazvini, M; Aronica, E; van IJcken, WFJ; de Valk, WG; Medici-van den Herik, E; van Slegtenhorst, M; Brick, L; Kozenko, M; Kohler, JN; Bernstein, JA; Monaghan, KG; Begtrup, A; Torene, R; Al Futaisi, A; Al Murshedi, F; Mani, R; Al Azri, F; Kamsteeg, E-J; Mojarrad, M; Eslahi, A; Khazaei, Z; Darmiyan, FM; Doosti, M; Karimiani, EG; Vandrovcova, J; Zafar, F; Rana, N; Kandaswamy, KK; Hertecant, J; Bauer, P; AlMuhaizea, MA; Salih, MA; Aldosary, M; Almass, R; Al-Quait, L; Qubbaj, W; Coskun, S; Alahmadi, KO; Hamad, MHA; Alwadaee, S; Awartani, K; Dababo, AM; Almohanna, F; Colak, D; Dehghani, M; Mehrjardi, MYV; Gunel, M; Ercan-Sencicek, AG; Passi, GR; Cheema, HA; Efthymiou, S; Houlden, H; Bertoli-Avella, AM; Brooks, AS; Retterer, K; Maroofian, R; Kaya, N; van Ham, TJ; Barakat, TS (2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathol, 139 (3). pp. 415-442. ISSN 1432-0533 https://doi.org/10.1007/s00401-019-02109-6Test SGUL Authors: Maroofian, Reza
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2دورية أكاديمية
المؤلفون: Perenthaler, E. (Elena), Nikoncuk, A. (Anita), Yousefi, S. (Soheil), Berdowski, W.M. (Woutje M.), Alsagob, M. (Maysoon), Capo, I. (Ivan), Linde, H.C. (Herma) van der, van den Berg, P. (Paul), Jacobs, E.H. (Edwin H.), Putar, D. (Darija), Ghazvini, M. (Mehrnaz), Aronica, E.M.A. (Eleonora), IJcken, W.F.J. (Wilfred) van, de Valk, W.G. (Walter G.), Medici-van den Herik, E. (Evita), Slegtenhorst, M.A. (Marjon) van, Brick, L. (Lauren), Kozenko, M. (Mariya), Kohler, J.N. (Jennefer N.), Bernstein, J.A. (Jonathan A.), Monaghan, K.G. (Kristin G.), Begtrup, A. (Amber), Torene, R. (Rebecca), Al Futaisi, A. (Amna), Al Murshedi, F. (Fathiya), Mani, R. (Renjith), Al Azri, F. (Faisal), Kamsteeg, E.J. (Erik-Jan), Mojarrad, M. (Majid), Eslahi, A. (Atieh), Khazaei, Z. (Zaynab), Darmiyan, F.M. (Fateme Massinaei), Doosti, M. (Mohammad), Karimiani, E.G. (Ehsan Ghayoor), Vandrovcova, J. (Jana), Zafar, F. (Faisal), Rana, N. (Nuzhat), Kandaswamy, K.K. (Krishna K.), Hertecant, J. (Jozef), Bauer, P. (Peter), AlMuhaizea, M.A. (Mohammed A.), Salih, M.A. (Mustafa A.), Aldosary, M. (Mazhor), Almass, R. (Rawan), Al-Quait, L. (Laila), Qubbaj, W. (Wafa), Coskun, S. (Serdar), Alahmadi, K.O. (Khaled O.), Hamad, M.H.A. (Muddathir H. A.), Alwadaee, S. (Salem), Awartani, K. (Khalid), Dababo, A.M. (Anas M.), Almohanna, F. (Futwan), Colak, D. (Dilek), Dehghani, M. (Mohammadreza), Mehrjardi, M.Y.V. (Mohammad Yahya Vahidi), Günel, M. (Murat), Ercan-Sencicek, A.G. (A. Gulhan), Passi, G.R. (Gouri Rao), Cheema, H.A. (Huma Arshad), Efthymiou, S. (Stephanie), Houlden, H. (Henry), Bertoli Avella, A.M. (Aida), Brooks, A.S. (Alice), Retterer, K. (Kyle), Maroofian, R. (Reza), Kaya, N. (Namik), Ham, T.J. (Tjakko) van, Barakat, T.S. (Tahsin Stefan)
المصدر: Acta Neuropathologica
مصطلحات موضوعية: ATG mutations, Epileptic encephalopathy, Essential gene, Founder mutation, Genetics, Microcephaly, Recurrent mutation, Start-loss mutation, UGP2, Whole exome sequencing
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/122932Test; urn:hdl:1765/122932
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3دورية أكاديمية
المؤلفون: Torene, R, Nirmala, N, Obici, L, Cattalini, M, Tormey, V, Caorsi, R, Starck-Schwertz, S, Letzkus, M, Hartmann, N, Abrams, K, Lachmann, H, Gattorno, M
المصدر: Annals of the rheumatic diseases , 76 (1) pp. 303-309. (2017)
مصطلحات موضوعية: Cytokines, Fever Syndromes, Inflammation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1508911/1/Ann%20Rheum%20Dis-2017Test-Torene-303-9.pdf; https://discovery.ucl.ac.uk/id/eprint/1508911Test/
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4دورية أكاديمية
المؤلفون: Gattorno, M, Torene, R, Lachmann, H, Obici, L, Meini, A, Tormey, V, Caorsi, R, Baeriswyl, L, Affentranger, U, Starck-Schwertz, S, Letzkus, M, Hartmann, N, Abrams, K, Nirmala, N
المصدر: Pediatric Rheumatology ; volume 12, issue S1 ; ISSN 1546-0096
مصطلحات موضوعية: Immunology and Allergy, Rheumatology, Pediatrics, Perinatology and Child Health
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5دورية أكاديمية
المؤلفون: Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W.M., Alsagob, M., Capo, I., Linde, H.C. van der, Berg, P. van den, Jacobs, E.H., Putar, D., Ghazvini, M., Aronica, E., van, I.W.F., Valk, W.G. de, Herik, E. Medici-van den, Slegtenhorst, M. van, Brick, L., Kozenko, M., Kohler, J.N., Bernstein, J.A., Monaghan, K.G., Begtrup, A., Torene, R., Futaisi, A. Al, Murshedi, F. Al, Mani, R., Azri, F. Al, Kamsteeg, E.J., Mojarrad, M., Eslahi, A., Khazaei, Z., Darmiyan, F.M., Doosti, M., Karimiani, E.G., Vandrovcova, J., Zafar, F., Rana, N., Kandaswamy, K.K., Hertecant, J., Bauer, P., AlMuhaizea, M.A., Salih, M.A., Aldosary, M., Almass, R., Al-Quait, L., Qubbaj, W., Coskun, S., Alahmadi, K.O., Hamad, M.H.A., Alwadaee, S., Awartani, K., Dababo, A.M., Almohanna, F., Colak, D., Dehghani, M., Mehrjardi, M.Y.V., Gunel, M., Ercan-Sencicek, A.G., Passi, G.R., Cheema, H.A., Efthymiou, S., Houlden, H., Bertoli-Avella, A.M., Brooks, A.S., Retterer, K., Maroofian, R., Kaya, N., Ham, T.J. van, Barakat, T.S.
المصدر: Acta Neuropathologica, 139, 3, pp. 415-442
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/218287/218287.pdfTest; https://hdl.handle.net/2066/218287Test; https://doi.org/10.1007/s00401-019-02109-6Test
الإتاحة: https://doi.org/10.1007/s00401-019-02109-6Test
https://hdl.handle.net/2066/218287Test
https://repository.ubn.ru.nl//bitstream/handle/2066/218287/218287.pdfTest -
6دورية أكاديمية
المؤلفون: Nirmala, N., Torene, R., Lachmann, H., Obici, L., Meini, A., Tormey, V., Caorsi, R., Baeriswyl, L., Affentranger, U., Starck-Schwertz, S., Letzkus, M., Hartmann, N., Abrams, K., Gattorno, M.
المصدر: Annals of the Rheumatic Diseases ; volume 73, issue Suppl 2, page 349.4-350 ; ISSN 0003-4967 1468-2060
مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, Immunology, Immunology and Allergy, Rheumatology
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المؤلفون: Nirmala, N., Abrams, K., Hartmann, N., Letzkus, M., Starck-Schwertz, S., Affentranger, U., Baeriswyl, L., Caorsi, R., Tormey, V., Meini, A., Laura Piera OBICI, Lachmann, H., Gattorno, M., Torene, R.
المصدر: Publons
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::754d708bd9a1599647ce7ad54a6c4337Test
https://publons.com/publon/27317078Test/ -
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المؤلفون: Martin Metz, Torene, R., Letzkus, M., Hartmann, N., Staubach, P., Bauer, A., Brehler, R., Gericke, J., Ashton-Chess, J., Jarvis, P., Erpenbeck, V. J., Maurer, M.
المصدر: ResearcherID
Web of Scienceالوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5e0b3f655cb96fe1d20eb7b235c25c01Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000385353900044&KeyUID=WOS:000385353900044Test