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1Academic Journal
المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., 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 M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.
المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., 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, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.
مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy
Relation: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135
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2Academic Journal
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
Relation: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdf; 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/dgaa700 SGUL Authors: McEntagart, Meriel
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3Academic Journal
المؤلفون: Osborne, JP, Edwards, SW, Alber, FD, Hancock, E, Johnson, AL, Kennedy, CR, Likeman, M, Lux, AL, Mackay, M, Mallick, A, Newton, RW, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, CM, O'Callaghan, FJK
المصدر: Epilepsia , 60 (9) pp. 1861-1869. (2019)
مصطلحات موضوعية: etiology, infantile spasms, West syndrome
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10082545/7/Johnson_The%20underlying%20etiology%20of%20infantile%20spasms%20%28West%20syndrome%29_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10082545/
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4Academic Journal
المؤلفون: O'Callaghan, FJK, Edwards, SW, Dietrich Alber, F, Cortina Borja, M, Hancock, E, Johnson, AL, Kennedy, CR, Likeman, M, Lux, AL, Mackay, MT, Mallick, AA, Newton, RW, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, CM, Osborne, JP
المصدر: The Lancet Child & Adolescent Health , 2 (10) pp. 715-725. (2018)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10056321/1/ICISS%2018%20month%20Outcome%20Paper%20%28Final%20accepted%20version%20-%20with%20link%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10056321/7/Web%20Appendix%20Document.pdf; https://discovery.ucl.ac.uk/id/eprint/10056321/12/Figure%201.pdf; https://discovery.ucl.ac.uk/id/eprint/10056321/17/Figure%202.pdf; https://discovery.ucl.ac.uk/id/eprint/10056321/22/Figure%203.pdf; https://discovery.ucl.ac.uk/id/eprint/10056321/
الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10056321/1/ICISS%2018%20month%20Outcome%20Paper%20%28Final%20accepted%20version%20-%20with%20link%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10056321/7/Web%20Appendix%20Document.pdf
https://discovery.ucl.ac.uk/id/eprint/10056321/12/Figure%201.pdf
https://discovery.ucl.ac.uk/id/eprint/10056321/17/Figure%202.pdf
https://discovery.ucl.ac.uk/id/eprint/10056321/22/Figure%203.pdf
https://discovery.ucl.ac.uk/id/eprint/10056321/ -
5Academic Journal
المؤلفون: O'Callaghan, FJ, Edwards, SW, Alber, FD, Hancock, E, Johnson, AL, Kennedy, CR, Likeman, M, Lux, AL, Mackay, M, Mallick, AA, Newton, RW, Nolan, M, Pressler, R, Rating, D, Schmitt, B, Verity, CM, Osborne, JP
المصدر: Lancet Neurology , 16 (1) pp. 33-42. (2016)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1529765/1/O%27Callaghan_Safety_and_effectiveness.pdf; https://discovery.ucl.ac.uk/id/eprint/1529765/
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6Academic Journal
المؤلفون: O’Callaghan, F, Edwards, S, Hancock, E, Johnson, A, Kennedy, C, Lux, A, Mackay, M, Newton, R, Nolan, M, Rating, D, Schmitt, B, Verity, C, Osborne, J
المصدر: Archives of Disease in Childhood ; volume 100, issue Suppl 3, page A24.3-A25 ; ISSN 0003-9888 1468-2044
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7Conference
المؤلفون: Fauser, S, Schulze-Bonhage, BA, Honegger, J, Carmona, H, Rona, S, Huppertz, HJ, Bast, T, Strobl, K, Pantazis, G, Steinhoff, BJ, Korinthenberg, R, Rating, D, Volk, B, Zentner, J
المصدر: 56. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie e.V. (DGNC), 3èmes journées françaises de Neurochirurgie (SFNC); 20050507-20050511; Strasbourg; DOCP012 /20050504/
مصطلحات موضوعية: ddc: 610
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8
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9Electronic Resource
المؤلفون: Pelletier, F., Perrier, S., Cayami, F.K., Mirchi, A., Saikali, S., Tran, L.T., Ulrick, N., Guerrero, K., Rampakakis, E., Spaendonk, R.M.L. van, Naidu, S., Pohl, D., Gibson, W.T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B.L., Brais, B., Sylvain, M., Sébire, G., Lourenço, C.M., Bonkowsky, J.L., Catsman-Berrevoets, C., Pinto, P.S., Tirupathi, S., Strømme, P., Grauw, T. de, Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W.S., 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, M.E., Gasparini, P., Gburek-Augustat, J., Moron, D. Gonzalez, Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G.M., Innes, A. Micheil, Kauffman, M., Kirwin, S.M., Kluger, G., Kolditz, P., Kotzaeridou, U., Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F.I., Moutton, S., Murphy, R.P.J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Marfa, M. Pineda, Pizzino, A., Plecko, B., Poll-The, B.T., Popovic, V., Rating, D., Rioux, M.F., Espinosa, N. Rodriguez, Ronan, A., Ostergaard, J.R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Roos, L.K. Sønderberg, Stevens, C.A., Synofzik, M., Sztriha, L., et al., Warrenburg, B.P.C. van de, Wolf, N.I., Bernard, G.
المصدر: Journal of Clinical Endocrinology and Metabolism; e660; e674; 0021-972X; 2; 106; ~Journal of Clinical Endocrinology and Metabolism~e660~e674~~~0021-972X~2~106~~
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10Academic Journal
المؤلفون: Bodamer, O A, Hussein, K, Morris, A A, Langhans, C-D, Rating, D, Mayatepek, E, Leonard, J V
مصطلحات موضوعية: Original articles
وصف الملف: text/html
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11Report
المؤلفون: Capovilla, G., Hoffmann, G., Jurkat-Rott, K., Antonnen, A., Kurlemann, G., Lehesjoki, A. E., Lehmann-Horn, F., Mastrangelo, M., Mause, U., Mueller, S., Neubauer, B., Puest, B., Rating, D., Robbiano, A., Ruf, S., Schroeder, C., Seidel, A., Specchio, N., Stephani, U., Striano, P., Teichler, J., Turkdogan, D., Vigevano, F., Viri, M., Bauer, P., Zara, F., Lerche, H., Weber, Y., Schubert, J., Paravidino, R., Becker, F., Berger, A., Bebek, Nerses, Bianchi, A., Brockmann, K., Bernardina, B. Dalla, Fukuyama, Y.
المساهمون: Eberhard Karls University of Tubingen ,, 2482865
مصطلحات موضوعية: Neurology, Health Sciences, Nöroloji, Neurology (clinical), Life Sciences, Sağlık Bilimleri, KLİNİK NEUROLOJİ, Klinik Tıp, Klinik Tıp (MED), Tıp, Dahili Tıp Bilimleri
Relation: Weber Y., Schubert J., Paravidino R., Becker F., Berger A., Bebek N., Bianchi A., Brockmann K., Capovilla G., Bernardina B. D. , et al., "PRRT2 MUTATIONS ARE THE MAJOR CAUSE OF BENIGN FAMILIAL INFANTILE SEIZURES (BFIS)", 10th European Congress on Epileptology, London, Kanada, 30 Eylül - 04 Ekim 2012, cilt.53, ss.2; vv_1032021; av_4031b125-4e34-4a06-8eb8-5e0c0b6ecf88; http://hdl.handle.net/20.500.12627/46928; https://doi.org/10.1111/j.1528-1167.2012.03679.x; 53
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12Report
المؤلفون: Rating, D, Weber, YG, Berger, A, Karafyllakes, S, Maier, S, Kurlemann, G, Pust, B, Halbach, A, Laux, C, Stephani, U, Fukuyama, Y, Osawa, M, Saito, K, Lehmann-Hom, F, Jurkat-Rott, K, Lerche, H, Neubauer, B, Bebek, Nerses
المساهمون: 128410
مصطلحات موضوعية: Neurology (clinical), Health Sciences, Life Sciences, KLİNİK NEUROLOJİ, Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Nöroloji, Neurology
Relation: Weber Y., Bebek N., Berger A., Karafyllakes S., Maier S., Kurlemann G., Rating D., Pust B., Halbach A., Laux C., et al., "Clinical and genetic investigations of families with pure benign familial infantile convulsions (BFIC): Confirmation of linkage to chromosome 16", 25th International Epilepsy Congress, Lisbon, Portekiz, 12 - 16 Ekim 2003, cilt.44, ss.166; av_ee0f0ade-9d11-4195-b8e4-1a3195c6e144; vv_1032021; http://hdl.handle.net/20.500.12627/156291; 44
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13Academic Journal
المؤلفون: Wolff, J E A, Westphal, S, Mölenkamp, G, Gnekow, A, Warmuth-Metz, M, Rating, D, Kuehl, J
المصدر: British Journal of Cancer ; volume 87, issue 9, page 945-949 ; ISSN 0007-0920 1532-1827
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14Academic Journal
المؤلفون: Pietz, J, Kreis, R, Boesch, C, Penzien, J, Rating, D, Herschkowitz, N
المصدر: Pediatric Research ; volume 38, issue 5, page 657-663 ; ISSN 0031-3998 1530-0447
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15Academic Journal
المؤلفون: Meier-augenstein, W., Rating, D., Hoffmann, G. F., Wendel, U., Matthiesen, U., Schadewaldt, P.
المصدر: Isotopes in Environmental and Health Studies ; volume 31, issue 3-4, page 261-266 ; ISSN 1025-6016 1477-2639
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16Academic Journal
المؤلفون: Hoffmann, G F, Janecke, A, Böhler, T, Verstappen-Dumoulin, B M A A, Rating, D, Linderkamp, O, Visser, G H
المصدر: Pediatric Research ; volume 36, issue 1, page 18A-18A ; ISSN 0031-3998 1530-0447
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17Academic Journal
المؤلفون: Hoffmann, G F, Jakobs, C, Meinck, H-M, Rating, D
المصدر: Pediatric Research ; volume 35, issue 2, page 41-266 ; ISSN 0031-3998 1530-0447
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18Academic Journal
المؤلفون: Meier-augenstein, W., Hess, A., Hoffmann, G. F., Rating, D.
المصدر: Isotopenpraxis Isotopes in Environmental and Health Studies ; volume 30, issue 4, page 349-358 ; ISSN 0021-1915
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19Academic Journal
المؤلفون: Hoffmann, G F, Barth, P, Lehnert, W, Duran, M, Hunneman, D H, Jaeken, J, Rating, D, Schutgens, R B, Voss, W, Ranefeld, F
المصدر: Pediatric Research ; volume 30, issue 6, page 650-650 ; ISSN 0031-3998 1530-0447
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20Academic Journal
المؤلفون: Schuler, E., Rating, D., Perez-Duenas, B., Ortigoza-Escobar, J., Haas, D., Hoffmann, G., Assmann, B.
المصدر: Neuropediatrics ; volume 48, issue S 01, page S1-S45 ; ISSN 0174-304X 1439-1899