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1دورية أكاديميةA progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing
المؤلفون: Nabavizadeh, N., Bressin, A., Shboul, M., Moreno Traspas, R., Chia, P., Bonnard, C., Szenker-Ravi, E., Saribas, B., Beillard, E., Altunoglu, U., Hojati, Z., Drutman, S., Freier, S., El-Khateeb, M., Fathallah, R., Casanova, J., Soror, W., Arafat, A., Escande-Beillard, N., Mayer, A., Reversade, B.
المصدر: Embo Molecular Medicine
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000C-7EA0-2Test; http://hdl.handle.net/21.11116/0000-000C-7EA2-0Test
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2دورية أكاديمية
المؤلفون: Aksu Uzunhan T., Ertürk B., Aydın K., Ayaz A., Altunoğlu U., Yarar M. H., Gezdirici A., İÇAĞASIOĞLU D. F., Gökpınar İli E., UYANIK B.
المساهمون: İÇAĞASIOĞLU, DİLARA FÜSUN, UYANIK, BÜLENT
مصطلحات موضوعية: Tıp, Dahili Tıp Bilimleri, Nöroloji, Cerrahi Tıp Bilimleri, Sağlık Bilimleri, Medicine, Internal Medicine Sciences, Neurology, Surgery Medicine Sciences, Health Sciences, Klinik Tıp (MED), Klinik Tıp, CERRAHİ, KLİNİK NÖROLOJİ, Clinical Medicine (MED), CLINICAL MEDICINE, SURGERY, CLINICAL NEUROLOGY, Cerrahi, Nöroloji (klinik), Neurology (clinical), ARMC9, HYLS1, Joubert syndrome, KATNIP, Molar tooth sign
العلاقة: Clinical Neurology and Neurosurgery; Aksu Uzunhan T., Ertürk B., Aydın K., Ayaz A., Altunoğlu U., Yarar M. H., Gezdirici A., İÇAĞASIOĞLU D. F., Gökpınar İli E., UYANIK B., et al., "Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome", Clinical Neurology and Neurosurgery, cilt.224, 2023; https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85144861812&origin=inwardTest; https://hdl.handle.net/20.500.12645/34938Test; 224
الإتاحة: https://doi.org/20.500.12645/34938Test
https://doi.org/10.1016/j.clineuro.2022.107560Test
https://hdl.handle.net/20.500.12645/34938Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85144861812&origin=inwardTest -
3دورية أكاديمية
المؤلفون: Lavillaureix, A., Rollier, P., Kim, A., Panasenkava, V., De Tayrac, M., Carré, W., Guyodo, H., Faoucher, M., Poirel, E., Akloul, L., Quelin, C., Whalen, S., Bos, J., Broekema, M., Van Hagen, J. M., Grand, K., Allen-Sharpley, M., Magness, E., Mclean, S., Kayserili, H., Altunoglu, U., En Qi Chong, A., Xue, S., Jeanne, M., Almontashiri, N., Habhab, W., Vanlerberghe, Clemence, Faivre, L., Viora Dupont, E., Philippe, C., Safraou, H., Laffargue, F., Mittendorf, L., Abou Jamra, R., Patil, S. J., Dalal, A., Sarma, A. S., Keren, B., Reversade, B., Dubourg, C., Odent, S., Dupé, V.
المساهمون: Université de Lille, CHU Lille
العلاقة: Genet Med; http://hdl.handle.net/20.500.12210/114219Test
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4دورية أكاديمية
المؤلفون: Adami, E, Viswanathan, S, Widjaja, AA, Ng, B, Chothani, S, Zhihao, N, Tan, J, Lio, PM, George, BL, Altunoglu, U, Ghosh, K, Paleja, BS, Schafer, S, Reversade, B, Albani, S, Ling, ALH, O'Reilly, S, Cook, SA
المصدر: 5826 ; 5820
العلاقة: Rheumatology; http://hdl.handle.net/10044/1/105618Test
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5دورية أكاديمية
المؤلفون: Vandervore, Laura, Schot, Rachel, Kasteleijn, Esmee, Oegema, Renske, Stouffs, K, Gheldof, A, Grochowska, Martyna, Sterre, Marianne, Unen, Leontine, Wilke, Martina, Elfferich, Peter, van der Spek, Peter, Heijsman, Daphne, Grandone, A, Demmers, Jeroen, Dekkers, Dick, Slotman, Johan, Kremers, Gert-Jan, Schaaf, Gerben, Masius, Roy, van Essen, AJ, Rump, P, van Haeringen, A, Peeters, E, Altunoglu, U, Kalayci, T, Poot, Raymond, Dobyns, WB, Bahi-Buisson, N, Verheijen, Frans, Jansen, AC (An), Verheijen - Mancini, Grazia
المصدر: Vandervore , L , Schot , R , Kasteleijn , E , Oegema , R , Stouffs , K , Gheldof , A , Grochowska , M , Sterre , M , Unen , L , Wilke , M , Elfferich , P , van der Spek , P , Heijsman , D , Grandone , A , Demmers , J , Dekkers , D , Slotman , J , Kremers , G-J , Schaaf , G , Masius , R , van Essen , AJ , Rump , P , van Haeringen , A , Peeters , E ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/brain/awz045Test
https://pure.eur.nl/en/publications/b3b4a3f8-1082-4ccc-b7ba-7d8835c0af71Test
https://pure.eur.nl/ws/files/48208665/REPUB_118248-OA.pdfTest
http://hdl.handle.net/1765/118248Test -
6دورية أكاديمية
المؤلفون: Lee, S, Chen, DY, Zaki, MS, Maroofian, R, Houlden, H, Di Donato, N, Abdin, D, Morsy, H, Mirzaa, GM, Dobyns, WB, McEvoy-Venneri, J, Stanley, V, James, KN, Mancini, GMS, Schot, R, Kalayci, T, Altunoglu, U, Karimiani, EG, Brick, L, Kozenko, M, Jamshidi, Y, Manzini, MC, Beiraghi Toosi, M, Gleeson, JG
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111260/13/APC2Ver14_rev2_submission.docxTest; https://openaccess.sgul.ac.uk/id/eprint/111260/15/Fig1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/20/Fig2.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/25/Fig3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/8/APC2Ver14_rev2_supplemental.pdfTest; Lee, S; Chen, DY; Zaki, MS; Maroofian, R; Houlden, H; Di Donato, N; Abdin, D; Morsy, H; Mirzaa, GM; Dobyns, WB; et al. Lee, S; Chen, DY; Zaki, MS; Maroofian, R; Houlden, H; Di Donato, N; Abdin, D; Morsy, H; Mirzaa, GM; Dobyns, WB; McEvoy-Venneri, J; Stanley, V; James, KN; Mancini, GMS; Schot, R; Kalayci, T; Altunoglu, U; Karimiani, EG; Brick, L; Kozenko, M; Jamshidi, Y; Manzini, MC; Beiraghi Toosi, M; Gleeson, JG (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet, 105 (4). pp. 844-853. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2019.08.013Test SGUL Authors: Jamshidi, Yalda
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.08.013Test
https://openaccess.sgul.ac.uk/id/eprint/111260Test/
https://openaccess.sgul.ac.uk/id/eprint/111260/13/APC2Ver14_rev2_submission.docxTest
https://openaccess.sgul.ac.uk/id/eprint/111260/15/Fig1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/20/Fig2.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/25/Fig3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/8/APC2Ver14_rev2_supplemental.pdfTest -
7دورية أكاديمية
المؤلفون: Rad, A, Altunoglu, U, Miller, R, Maroofian, R, James, KN, Çağlayan, AO, Najafi, M, Stanley, V, Boustany, R-M, Yeşil, G, Sahebzamani, A, Ercan-Sencicek, G, Saeidi, K, Wu, K, Bauer, P, Bakey, Z, Gleeson, JG, Hauser, N, Gunel, M, Kayserili, H, Schmidts, M
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110452/1/jmedgenet-2018-105623.full.pdfTest; Rad, A; Altunoglu, U; Miller, R; Maroofian, R; James, KN; Çağlayan, AO; Najafi, M; Stanley, V; Boustany, R-M; Yeşil, G; et al. Rad, A; Altunoglu, U; Miller, R; Maroofian, R; James, KN; Çağlayan, AO; Najafi, M; Stanley, V; Boustany, R-M; Yeşil, G; Sahebzamani, A; Ercan-Sencicek, G; Saeidi, K; Wu, K; Bauer, P; Bakey, Z; Gleeson, JG; Hauser, N; Gunel, M; Kayserili, H; Schmidts, M (2019) MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet, 56 (5). pp. 332-339. ISSN 1468-6244 https://doi.org/10.1136/jmedgenet-2018-105623Test SGUL Authors: Maroofian, Reza
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8دورية أكاديمية
المؤلفون: Acuna-Hidalgo, R. (Rocio), Deriziotis, P. (Pelagia), Steehouwer, M. (Marloes), Gilissen, C. (Christian), Graham, S.A. (Sarah A.), van Dam, S. (Sipko), Hoover-Fong, J. (Julie), Telegrafi, A.B. (Aida B.), Destrée, A. (Anne), Smigiel, R. (Robert), Lambie, L.A. (Lindsday A.), Kayserili, H. (Hülya), Altunoglu, U. (Umut), Lapi, E. (Elisabetta), Uzielli, M.L. (Maria Luisa), Aracena, M. (Mariana), Nur, B.G. (Banu G.), Mihci, E. (Ercan), Moreira, L.M.A. (Lilia M. A.), Borges Ferreira, V. (Viviane), Horovitz, D.D.G. (Dafne D. G.), da Rocha, K.M. (Katia M.), Jezela-Stanek, A. (Aleksandra), Brooks, A.S. (Alice), Reutter, H. (Heiko), Cohen, J.S. (Julie S.), Fatemi, A. (Ali), Smitka, M. (Martin), Grebe, T.A. (Theresa A.), Di Donato, N. (Nataliya), Deshpande, C. (Charu), Vandersteen, A.M. (Anthony M.), Marques Lourenço, C. (Charles), Dufke, A. (Andreas), Rossier, E. (Eva), Andre, G. (Gwenaelle), Baumer, A. (Alessandra), Spencer, C. (Careni), McGaughran, J., Franke, L. (Lude), Veltman, J.A. (Joris), Vries, B. (Boukje) de, Schinzel, A. (Albert), Fisher, S.E. (Simon), Hoischen, A. (Alex), Bon, B. (Bregje) van
المصدر: PL o S Genetics (Online) vol. 13 no. 3
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/98994Test; urn:hdl:1765/98994
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9دورية أكاديمية
المؤلفون: Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S., Van Dam, S., Hoover-Fong, J., Telegrafi, A., Destree, A., Smigiel, R., Lambie, L., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M., Aracena, M., Nur, B., Mihci, E., Moreira, L., Ferreira, V., Horovitz, D., Da Rocha, K., Jezela-Stanek, A., Brooks, A., Reutter, H., Cohen, J., Fatemi, A., Smitka, M., Grebe, T., Di Donato, N., Deshpande, C., Vandersteen, A., Marques Lourenço, C., Dufke, A., Rossier, E., Andre, G., Baumer, A., Spencer, C., McGaughran, J., Franke, L., Veltman, J., De Vries, B., Schinzel, A., Fisher, S., Hoischen, A., Van Bon, B.
المصدر: PLoS Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/11858/00-001M-0000-002C-A655-FTest; http://hdl.handle.net/11858/00-001M-0000-002C-F524-2Test
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10دورية أكاديمية
المؤلفون: Çağlayan, Ao, Blaser, S, Chitayat, D, Warwick, L, Freckmann, Ml, Altunoglu, U, Kayserili, H, De, Meirleir, Davies, Jh, Marin-Valencia, I, Markmiller, S, Shaw, Tl, Widjaja, A, Mande, R, Musaev, D, Guemez-Gamboa, A, Gregor, A, Dikoglu, E, Rosti, Ro, Heckman, Ld, Silhavy, Jl, Scott, E, Akizu, N, Rosti, B, Schlachetzki, Z, Van, Nostrand, Sathe, S, Grainger, S, Zaki, Ms, Eggens, Vr, Lardelli, Rm, Schaffer, Ae, Per, Hüseyin, Gleeson, Jg, Lykke-Andersen, J, Baas, F, Yeo, Gw, Bennett, Ej, Nassogne, Mc, Valente, Em, Gunel, M, Gabriel, Sb, Bova, Sm, Spaccini, L, Traver, D, Chi, Nc, Dobyns, Wb, Foulds, N, Ogata, K, Shiina, M, Saitsu, H, Muramatsu, K, Matsumoto, N, Manchester, D, Aldinger, Ka, Kibaek, M, Christesen, Ht, Fagerberg, C, Bilguvar, K
العلاقة: 794afd61-8a73-4521-9a7c-0388d3347c22; https://avesis.erciyes.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest
الإتاحة: https://doi.org/10.1038/ng.3762Test
https://avesis.erciyes.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest
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