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1دورية أكاديمية
المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.
المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
وصف الملف: application/octet-stream
العلاقة: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123Test
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2دورية أكاديمية
المؤلفون: Himmelreich, N., Bertoldi, M., Alfadhel, M., Alghamdi, M.A., Anikster, Y., Bao, X., Bashiri, F.A., Zeev, B.B., Bisello, G., Ceylan, A.C., Chien, Y.-H., Choy, Y.S., Elsea, S.H., Flint, L., García-Cazorla, À., Gijavanekar, C., Gümüş, E.Y., Hamad, M.H., Hişmi, B., Honzik, T., Hübschmann, O.K., Hwu, W.-L., Ibáñez-Micó, S., Jeltsch, K., Juliá-Palacios, N., Kasapkara, Ç.S., Kurian, M.A., Kusmierska, K., Liu, N., Ngu, L.H., Odom, J.D., Ong, W.P., Opladen, T., Oppeboen, M., Pearl, P.L., Pérez, B., Pons, R., Rygiel, A.M., Shien, T.E., Spaull, R., Sykut-Cegielska, J., Tabarki, B., Tangeraas, T., Thöny, B., Wassenberg, T., Wen, Y., Yakob, Y., Yin, J.G.C., Zeman, J., Blau, N.
المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y-H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Hübschmann , O K , Hwu , W-L , Ibáñez-Micó , ....
العلاقة: https://research-information.bris.ac.uk/en/publications/7ce90ca5-1a77-498e-bae8-5039e48b4633Test
الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107624Test
https://hdl.handle.net/1983/7ce90ca5-1a77-498e-bae8-5039e48b4633Test
https://research-information.bris.ac.uk/en/publications/7ce90ca5-1a77-498e-bae8-5039e48b4633Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-85162242618&partnerID=MN8TOARSTest -
3دورية أكاديمية
المؤلفون: Marafi, D, Fatih, JM, Kaiyrzhanov, R, Ferla, MP, Gijavanekar, C, Al-Maraghi, A, Liu, N, Sites, E, Alsaif, HS, Al-Owain, M, Zakkariah, M, El-Anany, E, Guliyeva, U, Guliyeva, S, Gaba, C, Haseeb, A, Alhashem, AM, Danish, E, Karageorgou, V, Beetz, C, Subhi, AA, Mullegama, SV, Torti, E, Sebastin, M, Breilyn, MS, Duberstein, S, Abdel-Hamid, MS, Mitani, T, Du, H, Rosenfeld, JA, Jhangiani, SN, Coban Akdemir, Z, Gibbs, RA, Taylor, JC, Fakhro, KA, Hunter, JV, Pehlivan, D, Zaki, MS, Gleeson, JG, Maroofian, R, Houlden, H, Posey, JE, Sutton, VR, Alkuraya, FS, Elsea, SH, Lupski, JR
المصدر: Brain , 145 (3) pp. 909-924. (2022)
مصطلحات موضوعية: SLC38A3, biallelic, glutamate transporter, glutamate/GABA-glutamine cycle
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139262Test/
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4دورية أكاديمية
المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.
المصدر: American Journal of Human Genetics, 110, 6, pp. 963-978
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.04.008Test
https://repository.ubn.ru.nl/handle/2066/293631Test -
5دورية أكاديمية
المؤلفون: Calame, D.G., Herman, I., Maroofian, R., Marshall, A.E., Donis, K.C., Fatih, J.M., Mitani, T., H.W. du, Grochowski, C.M., Sousa, S.B., Gijavanekar, C., Bakhtiari, S., Ito, Y.A., Rocca, C., Hunter, J.V., Sutton, V.R., Emrick, L.T., Boycott, K.M., Lossos, A., Fellig, Y., Prus, E., Kalish, Y., Meiner, V., Suerink, M., Ruivenkamp, C., Muirhead, K., Saadi, N.W., Zaki, M.S., Bouman, A., Barakat, T.S., Skidmore, D.L., Osmond, M., Silva, T.O., Murphy, D., Karimiani, E.G., Jamshidi, Y., Jaddoa, A.G., Tajsharghi, H., Jin, S.C., Abbaszadegan, M.R., Ebrahimzadeh-Vesal, R., Hosseini, S., Alavi, S., Bahreini, A., Zarean, E., Salehi, M.M., Al-Sannaa, N.A., Zifarelli, G., Bauer, P., Robson, S.C., Coban-Akdemir, Z., Travaglini, L., Nicita, F., Jhangiani, S.N., Gibbs, R.A., Posey, J.E., Kruer, M.C., Kernohan, K.D., Saute, J.A.M., Houlden, H., Vanderver, A., Elsea, S.H., Pehlivan, D., Marafi, D., Lupski, J.R.
المصدر: Annals of Neurology
وصف الملف: application/pdf
العلاقة: lumc-id: 177520364; https://hdl.handle.net/1887/3564840Test