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1دورية أكاديمية
المؤلفون: Mills, PB, Camuzeaux, SSM, Footitt, EJ, Mills, KA, Gissen, P, Fisher, L, Das, KB, Varadkar, SM, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, MR, Maier, O, Calvert, S, Riney, K, Wolf, NI, Livingston, JH, Bala, P, Morel, CF, Feillet, F, Raimondi, F, Del Giudice, E, Chong, WK, Pitt, M, Clayton, PT
المصدر: Brain : a journal of neurology. 137(Pt 5):1350-1360
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: van Geest, Ferdy, Meima, Marcel, Stuurman, Kyra, Wolf, NI, van der Knaap, MS, Lorea, CF, Poswar, FO, Vairo, F, Brunetti-Pierri, N, Cappuccio, G, Bakhtiani, P, de Munnik, SA, Peeters, Robin, Visser, Edward, Groeneweg, Stefan
المصدر: van Geest , F , Meima , M , Stuurman , K , Wolf , NI , van der Knaap , MS , Lorea , CF , Poswar , FO , Vairo , F , Brunetti-Pierri , N , Cappuccio , G , Bakhtiani , P , de Munnik , SA , Peeters , R , Visser , E & Groeneweg , S 2021 , ' Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series ' , The Journal of clinical endocrinology and metabolism , vol. 106 , no. 2 , pp. 539-553 . https://doi.org/10.1210/clinem/dgaa795Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1210/clinem/dgaa795Test
https://pure.eur.nl/en/publications/70e71f3c-74fe-4edd-bcde-d5b7399c031bTest
https://pure.eur.nl/ws/files/48446032/Repub_134564_O-A.pdfTest -
3دورية أكاديمية
المؤلفون: Reinhard, C, Bachoud-Levi, A-C, Baeumer, T, Bertini, E, Brunelle, A, Buizer, AI, Federico, A, Gasser, T, Groeschel, S, Hermanns, S, Klockgether, T, Kraegeloh-Mann, I, Landwehrmeyer, GB, Leber, I, Macaya, A, Mariotti, C, Meissner, WG, Molnar, MJ, Nonnekes, J, Ortigoza Escobar, JD, Perez Duenas, B, Renna Linton, L, Schoels, L, Schuele, R, Tijssen, MAJ, Vandenberghe, R, Volkmer, A, Wolf, NI, Graessner, H
المصدر: Frontiers in Neurology , 11 , Article 616569. (2021)
مصطلحات موضوعية: rare neurological diseases, standards of care, training and education, virtual healthcare, European reference network
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10125584/1/fneur-11-616569.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10125584Test/
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4دورية أكاديمية
المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel
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5دورية أكاديمية
المؤلفون: Beerepoot, S, van Dooren, SJM, Salomons, GS, Boelens, JJ, Jacobs, Ed, van der Knaap, MS, van Kuilenburg, ABP, Wolf, NI
المصدر: Beerepoot , S , van Dooren , SJM , Salomons , GS , Boelens , JJ , Jacobs , E , van der Knaap , MS , van Kuilenburg , ABP & Wolf , NI 2020 , ' Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients ' , Neurogenetics , vol. 21 , no. 4 , pp. 289-299 . https://doi.org/10.1007/s10048-020-00621-6Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s10048-020-00621-6Test
https://pure.eur.nl/en/publications/30d946eb-1a27-4a89-a7df-154841138f65Test
https://pure.eur.nl/ws/files/48363570/Repub_128853_O-A.pdfTest
http://hdl.handle.net/1765/128853Test -
6دورية أكاديمية
المؤلفون: Groeneweg, S, Van Geest, F. S, Abaci, A, Alcantud, A, Ambegaonkar, G. P, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, Van der Knaap, MS, Van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Muller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, JL, Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE
المصدر: The Lancet Diabetes and Endocrinology
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/S2213-8587Test(20)30153-4
https://repositorio.uchile.cl/handle/2250/190248Test -
7دورية أكاديمية
المؤلفون: Groeneweg, S, Peeters, RP, Moran, C, Stoupa, MA, Auriol, F, Tonduti, D, Dica, A, Paone, L, Rozenkova, K, Malikova, J, van der Walt, A, de Coo, IFM, McGowan, A, Lyons, G, Aarsen, RFK, Barca, PD, van Beynu, IM, van der Knoop, MM, Jansen, J, Manshande, M, Lunsing, RJ, Nowak, S, den Uil, CA, Zillikens, MC, Visser, FE, Vrijoeth, P, de Wit, MCY, Wolf, NI, Zandstra, A, Abegaonkar, G, Singh, Y, de Rijke, YB, Medici, M, Bertini, ES, Depoorter, S, Lebl, J, Cappa, M, De Meirleir, L, Krude, H, Craiu, D, Zibordi, F, Petit, IO, Polak, M, Chatterjee, K, Visser, TJ, Visser, WE
المساهمون: S. Groeneweg, R. Peeter, C. Moran, M. Stoupa, F. Auriol, D. Tonduti, A. Dica, L. Paone, K. Rozenkova, J. Malikova, A. van der Walt, I. de Coo, A. Mcgowan, G. Lyon, R. Aarsen, P. Barca, I. van Beynu, M. van der Knoop, J. Jansen, M. Manshande, R. Lunsing, S. Nowak, C. den Uil, M. Zilliken, F. Visser, P. Vrijoeth, M. de Wit, N. Wolf, A. Zandstra, G. Abegaonkar, Y. Singh, Y. de Rijke, M. Medici, E. Bertini, S. Depoorter, J. Lebl, M. Cappa, L. De Meirleir, H. Krude, D. Craiu, F. Zibordi, I. Petit, M. Polak, K. Chatterjee, T. Visser, W. Visser
مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31377265; info:eu-repo/semantics/altIdentifier/wos/WOS:000482132700020; volume:7; issue:9; firstpage:695; lastpage:706; numberofpages:12; journal:THE LANCET DIABETES & ENDOCRINOLOGY; https://hdl.handle.net/2434/938856Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070859264
الإتاحة: https://doi.org/10.1016/S2213-8587Test(19)30155-X
https://hdl.handle.net/2434/938856Test -
8دورية أكاديمية
المؤلفون: Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 46, issue s1, page S34 ; ISSN 0317-1671 2057-0155
مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine
الإتاحة: https://doi.org/10.1017/cjn.2019.175Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167119001756Test -
9دورية أكاديمية
المؤلفون: Wortmann, SB, van Hasselt, PM, Baric, I, Burlina, A, Darin, N, Horster, F, Coker, M, Ucar, SK, Krumina, Z, Naess, K, Ngu, LH, Pronicka, E, Riordan, G, Santer, R, Wassmer, E, Zschocke, J, Schiff, M, de Meirleir, L, Alowain, MA, Smeitink, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI, Willemsen, MA
المصدر: Neuropediatrics. 46(2):98-103
مصطلحات موضوعية: Medicin och hälsovetenskap
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10
المؤلفون: Wolf, NI, Baple, Emma L, Salter, Claire, Uhlig, Holm H., Crosby, Andrew H, Adam, Margaret, Everman, David B., Mirzaa, Ghayda M., Wallace, Stephanie, Gripp, Karen W.
المصدر: Wolf, NI, Baple, E L, Salter, C, Uhlig, H H, Crosby, A H, Adam, M, Everman, D B, Mirzaa, G M, Wallace, S & Gripp, K W 2022, ' PI4KA-Related Disorder ', GeneReviews .
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_____10172::6ce6ea460a139a399b53f839bd8b0db8Test
https://research.vumc.nl/en/publications/d153b014-1db9-442c-a3dc-cebb2aab8bb3Test
النص الكامل