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1رسالة جامعية
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2دورية أكاديمية
المؤلفون: Fancher, R., Frankel, I., Chin, K.C.H., Abi Ghanem, Maroun, Macnider, B., Shannahan, L.S., Berry, J.F., Fermen-Coker, M., Boydston, A.J., Boechler, N.
المساهمون: University of California San Diego (UC San Diego), University of California (UC), University of Wisconsin-Madison, iLM - Biophysique (iLM - BIOPHYSIQUE), Institut Lumière Matière Villeurbanne (ILM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 2352-4316 ; Extreme Mechanics Letters ; https://hal.science/hal-04297630Test ; Extreme Mechanics Letters, 2023, 63, pp.102044. ⟨10.1016/j.eml.2023.102044⟩.
مصطلحات موضوعية: [SPI]Engineering Sciences [physics]
العلاقة: info:eu-repo/semantics/altIdentifier/arxiv/2301.09149; hal-04297630; https://hal.science/hal-04297630Test; https://hal.science/hal-04297630/documentTest; https://hal.science/hal-04297630/file/1-s2.0-S2352431623000901-main.pdfTest; ARXIV: 2301.09149
الإتاحة: https://doi.org/10.1016/j.eml.2023.102044Test
https://hal.science/hal-04297630Test
https://hal.science/hal-04297630/documentTest
https://hal.science/hal-04297630/file/1-s2.0-S2352431623000901-main.pdfTest -
3دورية أكاديمية
المؤلفون: Ozek, G, Aksoylar, S, Uçar, SU, Canda, E, Akcan, M, Cartı, O, Siviş, ZO, Oymak, Y, Yazıcı, H, Bax, BE, Bulut, FD, Çelik, MY, Erdem, M, Çoker, M, Kansoy, S
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115346/3/Pediatric%20Blood%20Cancer%20-%202023%20-%20Ozek%20-%20Hematopoietic%20stem%20cell%20transplantation%20with%20reduced%20toxicity%20conditioning%20regimen.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115346/1/MNGIE.docxTest; Ozek, G; Aksoylar, S; Uçar, SU; Canda, E; Akcan, M; Cartı, O; Siviş, ZO; Oymak, Y; Yazıcı, H; Bax, BE; et al. Ozek, G; Aksoylar, S; Uçar, SU; Canda, E; Akcan, M; Cartı, O; Siviş, ZO; Oymak, Y; Yazıcı, H; Bax, BE; Bulut, FD; Çelik, MY; Erdem, M; Çoker, M; Kansoy, S (2023) Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome. Pediatric Blood & Cancer, 70 (7). e30334. ISSN 1545-5009 https://doi.org/10.1002/pbc.30334Test SGUL Authors: Bax, Bridget Elizabeth
الإتاحة: https://doi.org/10.1002/pbc.30334Test
https://openaccess.sgul.ac.uk/id/eprint/115346Test/
https://openaccess.sgul.ac.uk/id/eprint/115346/3/Pediatric%20Blood%20Cancer%20-%202023%20-%20Ozek%20-%20Hematopoietic%20stem%20cell%20transplantation%20with%20reduced%20toxicity%20conditioning%20regimen.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115346/1/MNGIE.docxTest -
4
المؤلفون: Wall, S. L., Velin, Lotta, Abbas, A., Allorto, N. L., Graner, M., Moeller, E., Ryan-Coker, M. F. D., Pompermaier, Laura, 1975
المصدر: Burns. 49(4):854-860
مصطلحات موضوعية: Burns, LMIC, Resource-limited setting
وصف الملف: print
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5دورية أكاديميةGlycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis
المؤلفون: Yazıcı, H., Çopur, O., Canbay, E., Durmaz, B., Canda, E., Ucar, S.K., Coker, M.
مصطلحات موضوعية: Mucopolysaccharidosis, Inflammation, Paraoxonase, aryldialkylphosphatase, catalase, chitotriosidase, cytokine, dermatan sulfate, gamma interferon, glutathione peroxidase, glycosaminoglycan, immunoglobulin enhancer binding protein, interleukin 1alpha, interleukin 1beta, interleukin 6, superoxide dismutase, adolescent, adult, antioxidant activity, Article, child, clinical article, controlled study, enzyme deficiency, enzyme replacement, erythrocyte, female, heart disease, human, Hunter syndrome
العلاقة: Cytokine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/92746Test; https://doi.org/10.1016/j.cyto.2023.156410Test; 173
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6دورية أكاديمية
المؤلفون: Canda E., Yazici H., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical Article, consanguineous marriage, differential diagnosis, enzyme activity, aspartate aminotransferase, genetic analysis, genetic association, human, alanine aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic screening, glucose urine level
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79419Test; https://doi.org/10.1002/jmd2.12263Test; 63; 25; 28
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7دورية أكاديمية
المؤلفون: Yazici H., Canda E., Altınok Y.A., Ucar S.K., Coker M.
مصطلحات موضوعية: alanine aminotransferase, aspartate aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical article, consanguineous marriage, differential diagnosis, enzyme activity, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic analysis, genetic association, genetic screening, glucose urine level, head circumference
العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12263Test; https://hdl.handle.net/11454/79419Test; 63; 25; 28; 2-s2.0-85123420633
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8دورية أكاديمية
المؤلفون: Kalkan Uçar, S, Yazıcı, H, Canda, E, Er, E, Bulut, FD, Eraslan, C, Onay, H, Bax, BE, Çoker, M
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114777/1/Clinical%20spectrum%20of%20early%20onset%20%20Mediterranean%20%20%20homozygous%20p%20P131L%20mutation.pdfTest; Kalkan Uçar, S; Yazıcı, H; Canda, E; Er, E; Bulut, FD; Eraslan, C; Onay, H; Bax, BE; Çoker, M (2022) Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy. JIMD Reports, 63 (5). pp. 484-493. ISSN 2192-8312 https://doi.org/10.1002/jmd2.12315Test SGUL Authors: Bax, Bridget Elizabeth
الإتاحة: https://doi.org/10.1002/jmd2.12315Test
https://openaccess.sgul.ac.uk/id/eprint/114777Test/
https://openaccess.sgul.ac.uk/id/eprint/114777/1/Clinical%20spectrum%20of%20early%20onset%20%20Mediterranean%20%20%20homozygous%20p%20P131L%20mutation.pdfTest -
9دورية أكاديمية
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
العلاقة: 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/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext
الإتاحة: https://doi.org/10.1016/j.jpeds.2021.08.070Test
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext -
10دورية أكاديمية
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
العلاقة: urn:issn:0022-3476; urn:issn:1097-6833
الوصول الحر: https://orbi.uliege.be/handle/2268/312112Test
النص الكامل