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1Academic Journal
المؤلفون: Dercksen, M, Conradie, E H, Hendriksz, C J, Malherbe, H, Vorster, B C
المصدر: South African Medical Journal ; volume 113, issue 12, page 9 ; ISSN 2078-5135 0256-9574
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2Academic Journal
المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.
المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.
مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext
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3Academic Journal
المؤلفون: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, François-Guillaume, Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up
المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)
مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
Relation: urn:issn:0022-3476; urn:issn:1097-6833
URL الوصول: https://orbi.uliege.be/handle/2268/312112
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4Academic Journal
المؤلفون: Sobrido Gómez, María Jesús, Bauer, P., de Koning, T., Klopstock, T., Nadjar, Y., Patterson, M. C., Synofzik, M., Hendriksz, C. J.
Relation: https://www.ncbi.nlm.nih.gov/pubmed/30665446; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341610/pdf/13023_2018_Article_985.pdf; http://hdl.handle.net/20.500.11940/15549; 30994
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5Academic Journal
المؤلفون: Geberhiwot, T, Moro, A, Dardis, A, Ramaswami, U, Sirrs, S, Marfa, MP, Vanier, MT, Walterfang, M, Bolton, S, Dawson, C, Heron, B, Stampfer, M, Imrie, J, Hendriksz, C, Gissen, P, Crushell, E, Coll, MJ, Nadjar, Y, Kluenemann, H, Mengel, E, Hrebicek, M, Jones, SA, Ory, D, Bembi, B, Patterson, M
Relation: pii: 10.1186/s13023-018-0785-7; Geberhiwot, T., Moro, A., Dardis, A., Ramaswami, U., Sirrs, S., Marfa, M. P., Vanier, M. T., Walterfang, M., Bolton, S., Dawson, C., Heron, B., Stampfer, M., Imrie, J., Hendriksz, C., Gissen, P., Crushell, E., Coll, M. J., Nadjar, Y., Kluenemann, H. ,. Patterson, M. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. ORPHANET JOURNAL OF RARE DISEASES, 13 (1), https://doi.org/10.1186/s13023-018-0785-7.; http://hdl.handle.net/11343/254768
الاتاحة: http://hdl.handle.net/11343/254768
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6Academic Journal
المؤلفون: Blundell, J, Frisson, S, Chakrapani, A, Kearney, S, Vijay, S, MacDonald, A, Gissen, P, Hendriksz, C, Olson, A
المصدر: Cognitive Neuropsychology , 35 (3-4) pp. 120-147. (2018)
مصطلحات موضوعية: Social Sciences, Psychology, Experimental, Attention, developmental disorder, language, morquio, tyrosinemia, VISUAL-SEARCH, DIFFUSION-MODEL, WORKING-MEMORY, READING ALOUD, EYE-MOVEMENT, DISORDERS, DYSLEXIA, BEHAVIOR, TASKS
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10055405/1/MarkerOfCogFunction_Blundelletal_revision1.pdf; https://discovery.ucl.ac.uk/id/eprint/10055405/
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7Academic Journal
المؤلفون: Blundell, J, Frisson, S, Chakrapani, A, Gissen, P, Hendriksz, C, Vijay, S, Olson, A
المصدر: Molecular Genetics and Metabolism , 123 (2) pp. 159-168. (2018)
مصطلحات موضوعية: Niemann-Pick C, supranuclear gaze palsy, eye-tracking, ocular motor, neurodegenerative disease, diagnosis
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10050785/1/Gissen_using%20high%20resolution%20video_rev_3.pdf; https://discovery.ucl.ac.uk/id/eprint/10050785/
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8Academic Journal
المؤلفون: Jones, SA, Almassy, Z, Beck, M, Burt, K, Clarke, JT, Giugliani, R, Hendriksz, C, Kroepfl, T, Lavery, L, Lin, SP, Malm, G, Ramaswami, U, Tincheva, R, Wraith, JE
المصدر: Journal of inherited metabolic disease. 32(4):534-543
مصطلحات موضوعية: Medicin och hälsovetenskap
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9Academic Journal
المؤلفون: Biegstraaten, M., Arngrímsson, R., Barbey, F., Boks, L., Cecchi, F., Deegan, P.B., Feldt-Rasmussen, U., Geberhiwot, T., Germain, D.P., Hendriksz, C., Hughes, D.A., Kantola, I., Karabul, N., Lavery, C., Linthorst, G.E., Mehta, A., van de Mheen, E., Oliveira, J.P., Parini, R., Ramaswami, U., Rudnicki, M., Serra, A., Sommer, C., Sunder-Plassmann, G., Svarstad, E., Sweeb, A., Terryn, W., Tylki-Szymanska, A., Tøndel, C., Vujkovac, B., Weidemann, F., Wijburg, F.A., Woolfson, P., Hollak, C.E.
المصدر: Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 36
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/25885911; info:eu-repo/semantics/altIdentifier/eissn/1750-1172; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C8A8921BAB456; https://serval.unil.ch/notice/serval:BIB_C8A8921BAB45; https://serval.unil.ch/resource/serval:BIB_C8A8921BAB45.P001/REF.pdf
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10Academic Journal
المؤلفون: Wood, T.C. (Timothy), Harvey, K. (Kirsten), Beck, M. (Markus), Burin, M.G. (Maira Graeff), Chien, Y.H., Church, H.J. (Heather), D'Almeida, V. (Vânia), Diggelen, O.P. (Otto) van, Fietz, M. (Michael), Giugliani, R. (Roberto), Harmatz, P. (Paul), Hawley, S.M. (Sara), Hwu, W.L., Ketteridge, D. (David), Lukacs, Z., Miller, N. (Nicola), Pasquali, M. (Marzia), Schenone, A. (Andrea), Thompson, J.N., Tylee, K. (Karen), Yu, C. (Cong), Hendriksz, C. (Chris)
المصدر: Journal of Inherited Metabolic Disease vol. 36 no. 2, pp. 293-307
مصطلحات موضوعية: DNA sequence, GALNS gene, Hunter syndrome, Hurler syndrome, Maroteaux Lamy syndrome, Morquio syndrome, article, chromosome 16q, disease severity, dried blood spot testing, enzyme activity, enzyme analysis, enzyme replacement, gene mutation, human, qualitative analysis, screening, sensitivity and specificity, skeleton malformation, spondyloepiphyseal dysplasia, tandem mass spectrometry, two dimensional electrophoresis, urinalysis
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/41210; urn:hdl:1765/41210
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11Academic Journal
المؤلفون: Hendriksz, C., Pineda, M., Wijburg, F., Sedel, F., Fahey, M., Walterfang, M., Patterson, M., Chadha-Boreham, H., Kolb, S., Wraith, J.
المصدر: Archives of Disease in Childhood ; volume 97, issue Suppl 2, page A296-A296 ; ISSN 0003-9888 1468-2044
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12Academic Journal
المؤلفون: Hartley, J, Bruce, C, Brown, R, McKay, K, Bauman, U, Sturm, E, Udd, B, Mckiernan, P, McMullen, D, Mansson, J, McDonald, F, Maher, E, Knisely, A, Hendriksz, C, Kelly, D, Gissen, P
مصطلحات موضوعية: BASL abstracts
وصف الملف: text/html
Relation: http://gut.bmj.com/cgi/content/short/59/Suppl_2/A12-c; http://dx.doi.org/10.1136/gut.2010.223362.29
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13Academic Journal
المؤلفون: Santra, S, Hendriksz, C
مصطلحات موضوعية: INTERPRETATIONS
وصف الملف: text/html
Relation: http://ep.bmj.com/cgi/content/short/adc.2009.174342v1; http://dx.doi.org/10.1136/adc.2009.174342
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14Academic Journal
المؤلفون: Akyol M. U., Alden T. D., Amartino H., Ashworth J., Belani K., Berger K. I., Borgo A., Braunlin E., Eto Y., Gold J. I., Jester A., Jones S. A., Karsli C., Mackenzie W., Marinho D. R., McFadyen A., McGill J., Mitchell J. J., Muenzer J., Okuyama T., Orchard P. J., Stevens B., Thomas S., Walker R., Wynn R., Giugliani R., Harmatz P., Hendriksz C., Scarpa M.
المساهمون: Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., Borgo, A., Braunlin, E., Eto, Y., Gold, J. I., Jester, A., Jones, S. A., Karsli, C., Mackenzie, W., Marinho, D. R., Mcfadyen, A., Mcgill, J., Mitchell, J. J., Muenzer, J., Okuyama, T., Orchard, P. J., Stevens, B., Thomas, S., Walker, R., Wynn, R., Giugliani, R., Harmatz, P., Hendriksz, C., Scarpa, M.
مصطلحات موضوعية: Anaesthetic, Enzyme replacement therapy, ERT, Galsulfase, Haematopoietic stem cell transplantation, HSCT, Management guideline, Maroteaux-Lamy syndrome, MPS VI, Mucopolysaccharidosi, Surgery
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000469494700002; volume:14; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3486177; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066959237
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15Academic Journal
المؤلفون: MacDonald, A, Chakrapani, A, Hendriksz, C, Daly, A, Davies, P, Asplin, D, Hall, K, Booth, I W
مصطلحات موضوعية: Original articles
وصف الملف: text/html
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16Academic Journal
المؤلفون: Hendriksz, C J
المصدر: Archives of Disease in Childhood ; volume 85, issue 4, page 339-340 ; ISSN 0003-9888
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17Academic Journal
المؤلفون: Huemer, M., Diodato, D., Martinelli, D., Olivieri, G., Blom, H., Gleich, F., Kölker, S., Kožich, V., Morris, A.A., Seifert, B., Froese, D.S., Baumgartner, M.R., Dionisi-Vici, C., Martin, C.A., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K.A., Couce, M.L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M.C., García Silva, M.T., Gaspar, A.M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, MCH, Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A.M., Martins, E.G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M.A., Santra, S., Schiff, M., Schwartz, I.V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-Adams, J.
المساهمون: EHOD consortium
المصدر: Journal of inherited metabolic disease, vol. 42, no. 2, pp. 333-352
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Amino Acid Metabolism, Inborn Errors/diagnosis, Inborn Errors/therapy, Child, Preschool, Cross-Sectional Studies, Disease Progression, Europe, Female, Homocystinuria/metabolism, Humans, Infant, Newborn, Male, Methylation, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency, Methylenetetrahydrofolate Reductase (NADPH2)/metabolism, Methylmalonic Acid/urine, Muscle Spasticity/metabolism, Phenotype, Pregnancy, Psychotic Disorders/metabolism, Registries, Retrospective Studies, Vitamin B 12/metabolism, Young Adult
Relation: info:eu-repo/semantics/altIdentifier/pmid/30773687; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; https://serval.unil.ch/notice/serval:BIB_D06F42D28EF4
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18Academic Journal
المؤلفون: Dercksen, M., Conradie, E. H., Hendriksz, C. J., Malherbe, H., Vorster, B. C.
المصدر: SAMJ: South African Medical Journal; Dec2023, Vol. 113 Issue 12, p1513-1514, 2p
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19Academic Journal
المؤلفون: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner, Matthias R., Dionisi-vici, Carlo, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J., Weisfeld-adams, J.
المصدر: Huemer , M , Diodato , D , Martinelli , D , Olivieri , G , Blom , H , Gleich , F , Kölker , S , Kožich , V , Morris , A A , Seifert , B , Froese , D S , Baumgartner , M R , Dionisi-vici , C , Alcalde Martin , C , Baethmann , M , Ballhausen , D , Blasco-alonso , J , Boy , N , Bueno , M , Burgos Peláez , R , Cerone , R , Chabrol , B , Chapman , K A , Couce ....
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20Academic Journal
المؤلفون: Stepien, K, Lum, S, Edmond Wraith, J, Hendriksz, C, Church, H, Priestman, D, Platt, F, Jones, S, Jovanovic, A, Wynn, R
Relation: https://ora.ox.ac.uk/objects/uuid:74af7181-5b64-44b3-97bd-e5840e981dfe; https://doi.org/10.1007/8904_2017_76