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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: Ramachandiran, N., Raniga, S., Al Kindi, S., Al Azri, F., Al Asmi, A.
المصدر: Journal of the Neurological Sciences ; volume 405, page 73-74 ; ISSN 0022-510X
مصطلحات موضوعية: Neurology (clinical), Neurology
الإتاحة: https://doi.org/10.1016/j.jns.2019.10.565Test
https://api.elsevier.com/content/article/PII:S0022510X1931038X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X1931038X?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Ahmed, MY, Al-Khayat, A, Al-Murshedi, F, Al-Futaisi, A, Chioza, BA, Pedro Fernandez-Murray, J, Self, JE, Salter, CG, Harlalka, GV, Rawlins, LE, Al-Zuhaibi, S, Al-Azri, F, Al-Rashdi, F, Cazenave-Gassiot, A, Wenk, MR, Al-Salmi, F, Patton, MA, Silver, DL, Baple, EL, McMaster, CR, Crosby, AH
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108687/1/aww318.pdfTest; Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; Al-Futaisi, A; Chioza, BA; Pedro Fernandez-Murray, J; Self, JE; Salter, CG; Harlalka, GV; Rawlins, LE; et al. Ahmed, MY; Al-Khayat, A; Al-Murshedi, F; Al-Futaisi, A; Chioza, BA; Pedro Fernandez-Murray, J; Self, JE; Salter, CG; Harlalka, GV; Rawlins, LE; Al-Zuhaibi, S; Al-Azri, F; Al-Rashdi, F; Cazenave-Gassiot, A; Wenk, MR; Al-Salmi, F; Patton, MA; Silver, DL; Baple, EL; McMaster, CR; Crosby, AH (2017) A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140 (3). pp. 547-554. ISSN 1460-2156 https://doi.org/10.1093/brain/aww318Test SGUL Authors: Patton, Michael Alexander
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5دورية أكاديمية
المؤلفون: Gujjar, A.R., Nandhagopal, R., Jacob, P.C., Al-Azri, F., Ganguly, S.S., Rana Shoaib, H., Al-Asmi, A.R.
المصدر: Journal of the Neurological Sciences ; volume 357, page e380 ; ISSN 0022-510X
مصطلحات موضوعية: Neurology (clinical), Neurology
الإتاحة: https://doi.org/10.1016/j.jns.2015.08.1353Test
https://api.elsevier.com/content/article/PII:S0022510X15018493?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022510X15018493?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Nandhagopal, R., Al-Asmi, A., Arunodaya, G.R., Jacob, P.C., Al-Azri, F., Burney, I.A.
مصطلحات موضوعية: Clinical pictures
وصف الملف: text/html
العلاقة: http://qjmed.oxfordjournals.org/cgi/content/short/104/7/619Test; http://dx.doi.org/10.1093/qjmed/hcq089Test
الإتاحة: https://doi.org/10.1093/qjmed/hcq089Test
http://qjmed.oxfordjournals.org/cgi/content/short/104/7/619Test -
7دورية أكاديمية
المؤلفون: Nandhagopal, R., Al-Asmi, A., Arunodaya, G.R., Jacob, P.C., Al-Azri, F., Burney, I.A.
مصطلحات موضوعية: Clinical Picture
وصف الملف: text/html
العلاقة: http://qjmed.oxfordjournals.org/cgi/content/short/hcq089v1Test; http://dx.doi.org/10.1093/qjmed/hcq089Test
الإتاحة: https://doi.org/10.1093/qjmed/hcq089Test
http://qjmed.oxfordjournals.org/cgi/content/short/hcq089v1Test -
8دورية أكاديمية
المؤلفون: Nandhagopal, R., Al-Asmi, A., Al-Azri, F., Jacob, P.C., Arunodaya, G.R., Alobaidy, A.
المصدر: Neurology ; volume 75, issue 14 ; ISSN 0028-3878 1526-632X
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9دورية أكاديمية
المؤلفون: Ahmed, M. Y., Al-Khayat, A., Al-Murshedi, F., Al-Futaisi, A., Chioza, B.A., Pedro Fernandez-Murray, J., Self, J. E., Salter, C. G., Harlalka, G. V., Rawlins, Lettie E, Al-Zuhaibi, S., Al-Azri, F., Al-Rashdi, F., Cazenave-Gassiot, A., Wenk, M. R., Al-Salmi, F., Patton, M. A., Silver, D. L., Baple, E. L., McMaster, C. R., Crosby, Andrew H.
العلاقة: A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. 2017 Mar 1;140(3):547-554 Brain; http://hdl.handle.net/11287/620173Test; Brain : a journal of neurology
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10دورية أكاديمية
المؤلفون: Al Riyami, Y., Bakathir, A., Al Farsi, K., Al Azri, F.
المصدر: International Journal of Oral and Maxillofacial Surgery ; volume 46, page 299 ; ISSN 0901-5027
مصطلحات موضوعية: Otorhinolaryngology, Oral Surgery, Surgery
الإتاحة: https://doi.org/10.1016/j.ijom.2017.02.1005Test
https://api.elsevier.com/content/article/PII:S0901502717310664?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0901502717310664?httpAccept=text/plainTest