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1دورية أكاديمية
المؤلفون: Gamage, TH, Gunnes, G, Lee, RH, Louch, WE, Holmgren, A, Bruton, JD, Lengle, E, Kolstad, TRS, Revold, T, Amundsen, SS, Dalen, KT, Holme, PA, Tjonnfjord, GE, Christensen, G, Westerblad, H, Klungland, A, Bergmeier, W, Misceo, D, Frengen, E
المصدر: Cell calcium. 76:87-100
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Saida, K, Maroofian, R, Sengoku, T, Mitani, T, Pagnamenta, AT, Marafi, D, Zaki, MS, O'Brien, TJ, Karimiani, EG, Kaiyrzhanov, R, Takizawa, M, Ohori, S, Leong, HY, Akay, G, Galehdari, H, Zamani, M, Romy, R, Carroll, CJ, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Malek, H, Ahangari, N, Tomoum, H, Gowda, VK, Srinivasan, VM, Murphy, D, Dominik, N, Elbendary, HM, Rafat, K, Yilmaz, S, Kanmaz, S, Serin, M, Krishnakumar, D, Gardham, A, Maw, A, Rao, TS, Alsubhi, S, Srour, M, Buhas, D, Jewett, T, Goldberg, RE, Shamseldin, H, Frengen, E, Misceo, D, Strømme, P, Magliocco Ceroni, JR, Kim, CA, Yesil, G, Sengenc, E, Guler, S, Hull, M, Parnes, M, Aktas, D, Anlar, B, Bayram, Y, Pehlivan, D, Posey, JE, Alavi, S, Madani Manshadi, SA, Alzaidan, H, Al-Owain, M, Alabdi, L, Abdulwahab, F, Sekiguchi, F, Hamanaka, K, Fujita, A, Uchiyama, Y, Mizuguchi, T, Miyatake, S, Miyake, N, Elshafie, RM, Salayev, K, Guliyeva, U, Alkuraya, FS, Gleeson, JG, Monaghan, KG, Langley, KG, Yang, H, Motavaf, M, Safari, S, Alipour, M, Ogata, K, Brown, AEX, Lupski, JR, Houlden, H, Matsumoto, N
المصدر: Genetics in Medicine , 25 (1) pp. 90-102. (2023)
مصطلحات موضوعية: Brain monoamine vesicular transport disease, Dopamine agonist, Dystonia, SLC18A2, VMAT2, Humans, Animals, Rats, Caenorhabditis elegans, Vesicular Monoamine Transport Proteins, Brain Diseases, Movement Disorders, Amines, Brain
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10184407Test/
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3دورية أكاديمية
المؤلفون: Ventura, M, Weigl, S, Carbone, L, Cardone, MF, Misceo, D, Teti, M, D'Addabbo, P, Wandall, A, Bjorck, E, de Jong, PJ, She, XW, Eichler, EE, Archidiacono, N, Rocchi, M
المصدر: Genome research. 14(9):1696-1703
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Skauli, N, Wallace, S, Chiang, SCC, Baroy, T, Holmgren, A, Stray-Pedersen, A, Bryceson, YT, Stromme, P, Frengen, E, Misceo, D
المصدر: Genes. 7(12)
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Gamage T. H., Lengle E., Gunnes G., Pullisaar H., Holmgren A., Reseland J. E., Merckoll E., Corti S., Mizobuchi M., Morales R. J., Tsiokas L., Tjonnfjord G. E., Lacruz R. S., Lyngstadaas S. P., Misceo D., Frengen E.
المساهمون: T.H. Gamage, E. Lengle, G. Gunne, H. Pullisaar, A. Holmgren, J.E. Reseland, E. Merckoll, S. Corti, M. Mizobuchi, R.J. Morale, L. Tsioka, G.E. Tjonnfjord, R.S. Lacruz, S.P. Lyngstadaa, D. Misceo, E. Frengen
مصطلحات موضوعية: Abnormal bone architecture, Ectopic hair growth, Skeletal defect, STIM1 R304W, Stormorken syndrome, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31785581; info:eu-repo/semantics/altIdentifier/wos/WOS:000502590100009; volume:85; journal:CELL CALCIUM; http://hdl.handle.net/2434/695115Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075534076
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6دورية أكاديمية
المؤلفون: Kotlarz, D, Marquardt, B, Barøy, T, Lee, W, Konnikova, L, Hollizeck, S, Magg, T, Lehle, A, Walz, C, Borggraefe, I, Hauck, F, Bufler, P, Conca, R, Wall, S, Schumacher, E, Misceo, D, Frengen, E, Bentsen, B, Uhlig, H, Hopfner, K, Muise, A, Snapper, S, Strømme, P, Klein, C
العلاقة: https://ora.ox.ac.uk/objects/uuid:5485890d-d737-4e5c-89cb-6f134cc90f71Test; https://doi.org/10.1038/s41588-018-0063-6Test
الإتاحة: https://doi.org/10.1038/s41588-018-0063-6Test
https://ora.ox.ac.uk/objects/uuid:5485890d-d737-4e5c-89cb-6f134cc90f71Test -
7دورية أكاديمية
المؤلفون: Stromme, P, Groeneweg, S, Lima de Souza, EC, Zevenbergen, C, Torgersbråten, A, Holmgren, A, Gurcan, E, Meima, M, Peeters, R, Visser, WE, Høneren Johansson, L, Babovic, A, Zetterberg, H, Heuer, H, Frengen, E, Misceo, D, Visser, TJ
المصدر: Thyroid , 28 (11) pp. 1406-1415. (2018)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10061204/1/Zetterberg_Str%C3%B8mme.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10061204Test/
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8دورية أكاديمية
المؤلفون: Gabriele, M, Vulto-van Silfhout, AT, Germain, P-L, Vitriolo, A, Kumar, R, Douglas, E, Haan, E, Kosaki, K, Takenouchi, T, Rauch, A, Steindl, K, Frengen, E, Misceo, D, Pedurupillay, CRJ, Stromme, P, Rosenfeld, JA, Shao, Y, Craigen, WJ, Schaaf, CP, Rodriguez-Buritica, D, Farach, L, Friedman, J, Thulin, P, McLean, SD, Nugent, KM, Morton, J, Nicholl, J, Andrieux, J, Stray-Pedersen, A, Chambon, P, Patrier, S, Lynch, SA, Kjaergaard, S, Tørring, PM, Brasch-Andersen, C, Ronan, A, van Haeringen, A, Anderson, PJ, Powis, Z, Brunner, HG, Pfundt, R, Schuurs-Hoeijmakers, JHM, van Bon, BWM, Lelieveld, S, Gilissen, C, Nillesen, WM, Vissers, LELM, Gecz, J, Koolen, DA, Testa, G, de Vries, BBA
العلاقة: NHMRC/1091593; pii: S0002-9297(17)30193-3; Gabriele, M., Vulto-van Silfhout, A. T., Germain, P. -L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P. ,. de Vries, B. B. A. (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet, 100 (6), pp.907-925. https://doi.org/10.1016/j.ajhg.2017.05.006Test.; http://hdl.handle.net/11343/327020Test
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9دورية أكاديميةZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
المؤلفون: Sumathipala, D., Strømme, P., Fattahi, Z., Lüders, T., Sheng, Y., Kahrizi, K., Einarsen, I.H., Sloan, J.L., Najmabadi, H., Heuvel, L.P.W.J. van den, Wevers, R.A., Guerrero-Castillo, S., MØrkrid, L., Valayannopoulos, V., Backe, P.H., Venditti, C.P., Karnebeek, C.D. van, Nilsen, H., Frengen, E., Misceo, D.
المصدر: Brain, 145, 7, pp. 2602-2616
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/283092/283092.pdfTest; https://repository.ubn.ru.nl/handle/2066/283092Test; https://doi.org/10.1093/brain/awac034Test
الإتاحة: https://doi.org/10.1093/brain/awac034Test
https://repository.ubn.ru.nl//bitstream/handle/2066/283092/283092.pdfTest
https://repository.ubn.ru.nl/handle/2066/283092Test -
10دورية أكاديمية
المؤلفون: Lowther, C., Mehrjouy, M.M., Collins, R.L., Bak, M.C., Dudchenko, O., Brand, H., Dong, Z., Rasmussen, M.B., Gu, H., Weisz, D., Nazaryan-Petersen, L., Fjorder, A.S., Mang, Y., Lind-Thomsen, A., Mendez, J.M.M., Calle, X., Chopra, A., Hansen, C., Bugge, M., Broekema, R.V., Varilo, T., Luukkonen, T., Engelen, J., Vianna-Morgante, A.M., Fonseca, A.C.S., Mazzeu, J.F., Dornelles-Wawruk, H., Abe, K.T., Vermeesch, J.R., Van Den Bogaert, K., Sismani, C., Aristidou, C., Evangelidou, P., Schinzel, A.A., Sanlaville, D., Schluth-Bolard, C., Kalscheuer, V.M., Wenzel, M., Kim, H.-G., Õunap, K., Roht, L., Midyan, S., Bonaglia, M.C., Lindstrand, A., Eisfeldt, J., Ottosson, J., Nilsson, D., Pettersson, M., Bastos, E.F., Rajcan-Separovic, E., Silan, F., Sheth, F.J., Novelli, A., Frengen, E., Fannemel, M., Strømme, P., Vokač, N.K., Daumer-Haas, C., Moretti-Ferreira, D., de Souza, D.H., Ramos-Arroyo, M.A., Igoa, M.M., Angelova, L., Kroisel, P.M., del Rey, G., Vieira, T.A.P., Lewis, S., Hao, W., Drabova, J., Havlovicova, M., Hancarova, M., Sedláček, Z., Vogel, I., Hjortshøj, T.D., Møller, R.S., Tümer, Z., Fagerberg, C., Ousager, L.B., Schönewolf-Greulich, B., Lauridsen, M., Piard, J., Pebrel-Richard, C., Jaillard, S., Ehmke, N., Stefanou, E.G., Marta, C., György, K., Dalal, A., Dutta, U.R., Shukla, R., Lonardo, F., Zuffardi, O., Houge, G., Misceo, D., Baig, S.M., Midro, A., Wawrusiewicz-Kurylonek, N., Carreira, I.M., Melo, J.B., Martinez, L.R., Guitart, M., Lovmar, L., Gullander, J., Hansson, K.B.M., de Almeida Esteves, C., Akkari, Y., Batanian, J.R., Li, X., Lespinasse, J., Silahtaroglu, A., Harding, C.H., Krogh, L.N., Taylor, J., Lehnert, K., Hill, R., Snell, R.G., Samson, C.A., Jacobsen, J.C., Levy, B., Clark, O.A., Toylu, A., Nur, B., Mihci, E., O’Keefe, K., Mohajeri-Stickels, K., Wilch, E.S., Kammin, T., Piña-Aguilar, R.E., Nalbandian, K., Temel, S.G., Sag, S.O., Turkgenc, B., Kamath, A., Ruiz-Herrera, A., Banka, S., Schilit, S.L.P., Currall, B.B., Yachelevich, N., Galloway, S., Chung, W.K., Raskin, S., Maya, I., Orenstein, N., Gilad, N.K., Flamenbaum, K.R., Hay, B.N., Morton, C.C., Liao, E., Choy, K.W., Gusella, J.F., Jacky, P., Aiden, E.L., Bache, I., Talkowski, M.E., Tommerup, N., da Cruz, A.D., Kulikowski, L.D., Novo Filho, G.M., Melaragno, M.I., Vazharova, R.V., Bradinova, I., Chitayat, D., Barisic, I., Mekkawy, M.M., Agnes, G., Pellestor, F., Dupont, C., Lebbar, A., Belaud-Rotureau, M.-A., Philippe, J., Pampanos, A.A., Kitsiou-Tzeli, S., Kardara, K., Kasturirangan, C.G., Kanakavalli, M., Kandukuri, L.R., Oruganti, V.P., Madon, P.F., Faradz, S.M.H., Giardino, D., Larizza, L., Recalcati, M.P., Dalpà, L., Sala, E., Kurahashi, H., Aleksiūnienė, B., Utkus, A., Ankathil, R., Tan, S.C., Kurpisz, M., Sousa, A.B., Travessa, A.M.R., Plaseska-Karanfilska, D., Abdulwahed, O.A., Zagorac, A., Bafalliu-Vidal, J.A., Lopez-Exposito, I., Soler-Sanchez, G., Vera-Carbonell, A., Kristoffersson, U., Filges, I., Charalsawadi, C., Aslanger, A.D., Cingöz, S., Dundar, M., Wolff, D.J.
المصدر: Lowther , C , Mehrjouy , M M , Collins , R L , Bak , M C , Dudchenko , O , Brand , H , Dong , Z , Rasmussen , M B , Gu , H , Weisz , D , Nazaryan-Petersen , L , Fjorder , A S , Mang , Y , Lind-Thomsen , A , Mendez , J M M , Calle , X , Chopra , A , Hansen , C , Bugge , M , Broekema , R V , Varilo , T , Luukkonen , T , Engelen , J ....
الإتاحة: https://doi.org/10.1101/2022.02.15.22270795Test
https://research.manchester.ac.uk/en/publications/06df4833-0ccb-4499-a219-1c1fb27da3e1Test
https://www.mendeley.com/catalogue/68b491b3-27e4-383a-bcfd-5b38a6c7c3c2Test/
النص الكامل