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1دورية أكاديمية
المؤلفون: Voigt, S., Koemans, E. A., Rasing, I., van Etten, E. S., Terwindt, G. M., Baas, F., Kaushik, K., van Es, A. C. G. M., van Buchem, M. A., van Osch, M. J. P., van Walderveen, M. A. A., Klijn, C. J. M., Verbeek, M. M., van der Weerd, L., Wermer, M. J. H.
المساهمون: Hersenstichting, Hartstichting
المصدر: Trials ; volume 24, issue 1 ; ISSN 1745-6215
مصطلحات موضوعية: Pharmacology (medical), Medicine (miscellaneous)
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2دورية أكاديمية
المؤلفون: Sprangers, MAG, Sloan, JA, Veenhoven, R, Cleeland, CS, Halyard, MY, Abertnethy, AR, Baas, F, Barsevick, AM, Bartels, M, Boomsma, DI, Chauhan, C, Dueck, AC, Frost, MH, Hall, P, Klepstad, P, Martin, NG, Miaskowski, C, Mosing, M, Movsas, B, Van Noorden, CJF, Patrick, DL, Pedersen, NL, Ropka, ME, Shi, QL, Shinozaki, G, Singh, JA, Yang, P, Zwinderman, AH
المصدر: Twin research and human genetics : the official journal of the International Society for Twin Studies. 12(3):301-311
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Wikstrom, L, Johansson, C, Salto, C, Barlow, C, Barros, AC, Baas, F, Forrest, D, Thoren, P, Vennstrom, B
المصدر: The EMBO journal. 17(2):455-461
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., Berry, J. D., Butovsky, O., Baloh, R. H., Shalem, Ophir, Heiman-Patterson, T., Stefanis, L., Chandran, S., Pal, S., Smith, C., Malaspina, A., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Poss, M., Zhang, B., Zaitlen, N., Hornstein, E., Miller, T. M., Dardiotis, E., Bowser, R., Menon, V., Harms, M., Atassi, N., Lange, D. J., MacGowan, D. J., McMillan, C., Aronica, E., Harris, B., Ravits, J., Crary, J., Thompson, L. M., Raj, T.
المساهمون: AriSLA Project: PathensTDP
المصدر: Communications Biology ; volume 5, issue 1 ; ISSN 2399-3642
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1038/s42003-022-03253-8Test
https://www.nature.com/articles/s42003-022-03253-8.pdfTest
https://www.nature.com/articles/s42003-022-03253-8Test -
5دورية أكاديمية
المؤلفون: Johnson J. O., Chia R., Miller D. E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A. E., Topp S. D., Gibbs J. R., Cookson M. R., Sabir M. S., Dalgard C. L., Troakes C., Jones A. R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I. P., Dobson-Stone C., Kwok J. B., Bonkowski E. S., Palvadeau R., Tienari P. J., Morrison K. E., Shaw P. J., Al-Chalabi A., Brown R. H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I. J., Perlman S. J., Glass I., Scott A. I., Shaw C. E., Basak A. N., Landers J. E., Chio A., Crawford T. O., Smith B. N., Traynor B. J., Fallini C., Gkazi A. S., Scotter E. L., Kenna K. P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A. L. M. A., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Leblond-Manry C., Rouleau G. A., Hardiman O., Veldink J. H., Van Den Berg L. H., Pall H., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J. D., Ratti A., Adeleye A., Soltis A. R., Alba C., Viollet C., Bacikova D., Hupalo D. N., Sukumar G., Pollard H. B., Wilkerson M. D., Martinez E. M., Ahmed S., Arepalli S., Baloh R. H., Bowser R., Brady C. B., Brice A., Broach J., Campbell R. H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V. E., Dunckley T. L., Eicher J. D., England B. K., Faghri F., Feldman E., Floeter M. K., Fratta P., Geiger J. T., Gerhard G., Gibson S. B., Hardy J., Harms M. B., Heiman-Patterson T. D., Hernandez D. G., Jansson L., Kirby J., Kowall N. W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D. J. L., Maragakis N. J., Mouzat K., Murphy N. A., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pickering-Brown S., Pioro E. P., Pletnikova O., Pliner H. A., Pulst S. M., Ravits J. M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J. D., Scholz S. W., Sendtner M., Sidle K. C., Simmons Z., Singleton A. B., Smith N., Stone D. J., Troncoso J. C., Valori M., Van Damme P., Van Deerlin V. M., Van Den Bosch L., Zinman L., Angelocola S. M., Ausiello F. P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T. A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F. L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P. M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F. O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M. G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M. R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E.
المساهمون: Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R.
مصطلحات موضوعية: Adolescent, Adult, Amyotrophic Lateral Sclerosi, Child, Preschool, Female, Genetic Predisposition to Disease, Human, Mutation, Serine C-Palmitoyltransferase, Whole Exome Sequencing, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34459874; info:eu-repo/semantics/altIdentifier/wos/WOS:000692566100005; volume:78; issue:10; firstpage:1236; lastpage:1248; numberofpages:13; journal:JAMA NEUROLOGY; http://hdl.handle.net/11365/1181203Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114289450; https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test; https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/
الإتاحة: https://doi.org/10.1001/jamaneurol.2021.2598Test
http://hdl.handle.net/11365/1181203Test
https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test
https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/ -
6دورية أكاديمية
المؤلفون: Kuitwaard, K. (Krista), Doorn, P.A. (Pieter) van, Bengrine, T. (Thiziri), Rijs, W. (Wouter) van, Baas, F. (Frank), Nagelkerke, S.Q. (Sietse Q.), Kuijpers, T.W. (Taco W.), Fokkink, W.-J.R. (Willem-Jan), Bunschoten, C. (Carina), Broers, M.C. (Merel C.), Willemsen, S.P. (Sten P.), Jacobs, B.C. (Bart), Huizinga, R. (Ruth)
المصدر: European Journal of Neurology
مصطلحات موضوعية: chronic inflammatory demyelinating polyradiculoneuropathy, genetic variation, intravenous immunoglobulin
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/134774Test; urn:hdl:1765/134774
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7دورية أكاديمية
المؤلفون: Appelhof, B, Wagner, M, Hoefele, J, Heinze, A, Roser, T, Koch-Hogrebe, M, Roosendaal, SD, Dehghani, M, Mehrjardi, MYV, Torti, E, Houlden, H, Maroofian, R, Rajabi, F, Sticht, H, Baas, F, Wieczorek, D, Jamra, RA
المصدر: European Journal of Human Genetics , 29-30 pp. 411-421. (2021)
مصطلحات موضوعية: Mutation, Neurodevelopmental disorders
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10115698/7/Houlden_Pontocerebellar%20hypoplasia%20due%20to%20bi-allelic%20variants%20in%20MINPP1_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10115698Test/
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8دورية أكاديمية
المؤلفون: Saettini, F, Poli, C, Vengoechea, J, Bonanomi, S, Orellana, JC, Fazio, G, Rodriguez, FH, Noguera, LP, Booth, CA, Jarur-Chamy, V, Shams, M, Iascone, M, Vukic, M, Gasperini, S, Quadri, M, Barroeta Seijas, AB, Rivers, E, Mauri, M, Badolato, R, Cazzaniga, G, Bugarin, C, Gaipa, G, Kroes, W, Moratto, D, Van Ostaijen-Ten Dam, MM, Baas, F, Van der Maarel, S, Piazza, R, Coban-Akdemir, Z, Lupski, JR, Yuan, B, Chinn, IK, Daxinger, L, Biondi, A
المصدر: Blood , 137 (4) pp. 493-499. (2021)
مصطلحات موضوعية: agammaglobulinemia, b-lymphocytes, hypertrophic cardiomyopathy, animal model, neutropenia, 1-phosphatidylinositol 3-kinase, antibodies, recurrent infection, uniparental disomy, b cell development
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10111555/1/Blood%20accepted%20version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10111555Test/
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9دورية أكاديمية
المؤلفون: Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdfTest; Johnson, JO, Chia, R, Miller, DE et al. (295 more authors) (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurology, 78 (10). pp. 1236-1248. ISSN 2168-6149
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10تقرير
المؤلفون: Israel, F. P., Tilanus, R. P. J., Baas, F.
مصطلحات موضوعية: Astrophysics
الوصول الحر: http://arxiv.org/abs/astro-ph/0509492Test
النص الكامل