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1دورية أكاديمية
المؤلفون: Deltas, C, Papagregoriou, G, Louka, SF, Malatras, A, Flinter, F, Gale, DP, Gear, S, Gross, O, Hoefele, J, Lennon, R, Miner, JH, Renieri, A, Savige, J, Turner, AN
المصدر: Genes , 14 (9) , Article 1686. (2023)
مصطلحات موضوعية: Alport syndrome, thin basement membrane nephropathy, focal segmental glomerulosclerosis, glomerular diseases, COL4 nephropathies, genetic modifiers
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10178658/1/Gale_Genetic%20Modifiers%20of%20Mendelian%20Monogenic%20Collagen%20IV%20Nephropathies%20in%20Humans%20and%20Mice_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10178658Test/
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2دورية أكاديمية
المؤلفون: Riedhammer, K.M., Nguyen, T.T.M., Koşukcu, C., Calzada-Wack, J., Li, Yong, Batzir, N.A., Saygılı, S., Wimmers, V., Kim, G.J., Chrysanthou, M., Bakey, Z., Sofrin-Drucker, E., Kraiger, M., Sanz-Moreno, A., Amarie, O.V., Rathkolb, B., Klein-Rodewald, T., Garrett, L., Hölter, S.M., Seisenberger, C., Haug, S., Schlosser, P., Marschall, S., Wurst, W., Fuchs, H., Gailus-Durner, V., Wuttke, M., Hrabe de Angelis, M., Ćomić, J., Akgün Doğan, Ö., Özlük, Y., Taşdemir, M., Ağbaş, A., Canpolat, N., Orenstein, N., Çalışkan, S., Weber, R.G., Bergmann, C., Jeanpierre, C., Saunier, S., Lim, T.Y., Hildebrandt, F., Alhaddad, B., Basel-Salmon, L., Borovitz, Y., Wu, K.M., Antony, D., Matschkal, J., Schaaf, C.W., Renders, L., Schmaderer, C., Rogg, M., Schell, C., Meitinger, T., Heemann, U., Köttgen, A., Arnold, S.J., Ozaltin, F., Schmidts, M., Hoefele, J.
المصدر: Kidney International, 105, 4, pp. 844-864
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
الإتاحة: https://doi.org/10.1016Test/j.kint.2023.11.032
https://repository.ubn.ru.nl/handle/2066/304545Test -
3دورية أكاديمية
المؤلفون: Alves, C.A.P.F., Sherbini, O., D’Arco, F., Steel, D., Kurian, M.A., Radio, F.C., Ferrero, G.B., Carli, D., Tartaglia, M., Balci, T.B., Powell-Hamilton, N.N., Schrier Vergano, S.A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E.R., Littlejohn, R.O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C.B., Mercimek-Andrews, S., Denecke, J., Lyons, M.J., Klopstock, T., Bhoj, E.J., Bryant, L., Vanderver, A.
مصطلحات موضوعية: info:eu-repo/classification/ddc
وصف الملف: application/pdf
العلاقة: https://mediatum.ub.tum.de/1748265Test; https://mediatum.ub.tum.de/doc/1748265/document.pdfTest
الإتاحة: https://doi.org/10.3174/ajnr.a7555Test
https://mediatum.ub.tum.de/1748265Test
https://mediatum.ub.tum.de/doc/1748265/document.pdfTest -
4دورية أكاديمية
المؤلفون: Daga, S, Ding, J, Deltas, C, Savige, J, Lipska-Ziętkiewicz, BS, Hoefele, J, Flinter, F, Gale, DP, Aksenova, M, Kai, H, Perin, L, Barua, M, Torra, R, Miner, JH, Massella, L, Ljubanović, DG, Lennon, R, Weinstock, AB, Knebelmann, B, Cerkauskaite, A, Gear, S, Gross, O, Turner, AN, Baldassarri, M, Pinto, AM, Renieri, A
العلاقة: pii: 10.1038/s41431-022-01075-0; Daga, S., Ding, J., Deltas, C., Savige, J., Lipska-Ziętkiewicz, B. S., Hoefele, J., Flinter, F., Gale, D. P., Aksenova, M., Kai, H., Perin, L., Barua, M., Torra, R., Miner, J. H., Massella, L., Ljubanović, D. G., Lennon, R., Weinstock, A. B., Knebelmann, B. ,. Renieri, A. (2022). The 2019 and 2021 International Workshops on Alport Syndrome. Eur J Hum Genet, 30 (5), pp.507-516. https://doi.org/10.1038/s41431-022-01075-0Test.; http://hdl.handle.net/11343/306312Test
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5دورية أكاديمية
المؤلفون: König, JC, Karsay, R, Gerß, J, Schlingmann, KP, Dahmer-Heath, M, Telgmann, AK, Kollmann, S, Ariceta, G, Gillion, V, Bockenhauer, D, Bertholet-Thomas, A, Mastrangelo, A, Boyer, O, Lilien, M, Decramer, S, Schanstra, JP, Pohl, M, Schild, R, Weber, S, Hoefele, J, Drube, J, Cetiner, M, Hansen, M, Thumfart, J, Tönshoff, B, Habbig, S, Liebau, MC, Bald, M, Bergmann, C, Pennekamp, P, Konrad, M, Antczak, P, Birtel, J, Haffner, D, Illig, T, Kamp-Becker, I, Klopp, N, König, J, Nittel, C, Okorn, C, Omran, H, Pape, L, Schäfer, F, Schermer, B, Storf, H, Vasseur, J, Wohlgemuth, K, Ziegler, W, Gimpel, C, Göbel, J, Schlevogt, B
المصدر: Kidney International Reports (2022) (In press).
مصطلحات موضوعية: end-stage kidney disease, genetic variant severity, genotype-phenotype correlations, kidney survival, nephronophthisis, prognostic factors
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10154002/1/1-s2.0-S2468024922014371-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10154002Test/
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6دورية أكاديمية
المؤلفون: Alves, CAPF, Sherbini, O, D'Arco, F, Steel, D, Kurian, MA, Radio, FC, Ferrero, GB, Carli, D, Tartaglia, M, Balci, TB, Powell-Hamilton, NN, Schrier Vergano, SA, Reutter, H, Hoefele, J, Günthner, R, Roeder, ER, Littlejohn, RO, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, CB, Mercimek-Andrews, S, Denecke, J, Lyons, MJ, Klopstock, T, Bhoj, EJ, Bryant, L, Vanderver, A
المصدر: American Journal of Neuroradiology , 43 (7) pp. 1048-1053. (2022)
مصطلحات موضوعية: Brain, Brain Neoplasms, Child, Germ Cells, Humans, Male, Malformations of Cortical Development, Neurodevelopmental Disorders, Retrospective Studies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153679Test/
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7دورية أكاديمية
المؤلفون: Drovandi, S., Lipska-Ziętkiewicz, B.S., Ozaltin, F., Emma, F., Gulhan, B., Boyer, O., Trautmann, A., Xu, H., Shen, Q., Rao, J., Riedhammer, K.M., Heemann, U., Hoefele, J., Stenton, S., Tsygin, A.N., Ng, K.H., Fomina, S., Benetti, E., Aurelle, M., Prikhodina, L., Schreuder, M.F., Tabatabaeifar, M., Jankowski, M., Baiko, S., Mao, J., Feng, C., Liu, C., Sun, S., Deng, F., Wang, X., Clavé, S., Stańczyk, M., Bałasz-Chmielewska, I., Fila, M., Durkan, A.M., Levart, T.K., Dursun, I., Esfandiar, N., Haas, D., Bjerre, A., Anarat, A., Benz, M.R., Talebi, S., Hooman, N., Ariceta, G., Schaefer, F.
المصدر: Kidney Int. 102, 604-612 (2022)
مصطلحات موضوعية: Coq2, Coq6, Coq8b, Coq(10) Supplementation Therapy, Eskd, Coenzyme Q(10) Deficiency, Genetic Kidney Disease, Hereditary, Kidney Survival, Outcome, Proteinuria Reduction
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35643375; info:eu-repo/semantics/altIdentifier/isbn/0085-2538; info:eu-repo/semantics/altIdentifier/pissn/0085-2538; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65475Test; urn:isbn:0085-2538; urn:issn:0085-2538; urn:issn:1523-1755
الإتاحة: https://doi.org/10.1016Test/j.kint.2022.04.029
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65475Test -
8دورية أكاديمية
المؤلفون: Drovandi, S., Lipska-Ziętkiewicz, B.S., Ozaltin, F., Emma, F., Gulhan, B., Boyer, O., Trautmann, A., Zietkiewicz, S., Xu, H., Shen, Q., Rao, J.L., Riedhammer, K.M., Heemann, U., Hoefele, J., Stenton, S., Tsygin, A.N., Ng, K.H., Fomina, S., Benetti, E., Aurelle, M., Prikhodina, L., Schijvens, A.M., Tabatabaeifar, M., Jankowski, M., Baiko, S., Mao, J., Feng, C., Deng, F., Rousset-Rouviere, C., Stańczyk, M., Bałasz-Chmielewska, I., Fila, M., Durkan, A.M., Levart, T.K., Dursun, I., Esfandiar, N., Haas, D., Bjerre, A., Anarat, A., Benz, M.R., Talebi, S., Hooman, N., Ariceta, G., Schaefer, F.
المصدر: Kidney Int. 102, 592-603 (2022)
مصطلحات موضوعية: Coenzyme Q10, Mitochondria, Steroid-resistant Nephrotic Syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35483523; info:eu-repo/semantics/altIdentifier/isbn/0085-2538; info:eu-repo/semantics/altIdentifier/pissn/0085-2538; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65036Test; urn:isbn:0085-2538; urn:issn:0085-2538; urn:issn:1523-1755
الإتاحة: https://doi.org/10.1016Test/j.kint.2022.02.040
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65036Test -
9دورية أكاديمية
المؤلفون: DROVANDI, S., Lipska-Ziętkiewicz Stefania, B., Ozaltin, F., Emma, F., Boyer, O., Xu, H., Mao, J., Riedhammer, K.M., Hoefele, J., Stenton, S.L., Tsygin, A.N., Fomina, S., Benetti, E., Schijvens, A.M., Schaefer, F.
المصدر: Kidney International Reports ; volume 7, issue 2, page S358 ; ISSN 2468-0249
مصطلحات موضوعية: Nephrology
الإتاحة: https://doi.org/10.1016Test/j.ekir.2022.01.869
https://api.elsevier.com/content/article/PII:S2468024922008695?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024922008695?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Weng P. L., Majmundar A. J., Khan K., Lim T. Y., Shril S., Jin G., Musgrove J., Wang M., Ahram D. F., Aggarwal V. S., Bier L. E., Heinzen E. L., Onuchic-Whitford A. C., Mann N., Buerger F., Schneider R., Deutsch K., Kitzler T. M., Klambt V., Kolb A., Mao Y., Moufawad El Achkar C., Mitrotti A., Martino J., Beck B. B., Altmuller J., Benz M. R., Yano S., Mikati M. A., Gunduz T., Cope H., Shashi V., Trachtman H., Bodria M., Caridi G., Pisani I., Fiaccadori E., AbuMaziad A. S., Martinez-Agosto J. A., Yadin O., Zuckerman J., Kim A., John-Kroegel U., Tyndall A. V., Parboosingh J. S., Innes A. M., Bierzynska A., Koziell A. B., Muorah M., Saleem M. A., Hoefele J., Riedhammer K. M., Gharavi A. G., Jobanputra V., Pierce-Hoffman E., Seaby E. G., O'Donnell-Luria A., Rehm H. L., Mane S., D'Agati V. D., Pollak M. R., Ghiggeri G. M., Lifton R. P., Goldstein D. B., Davis E. E., Hildebrandt F., Sanna-Cherchi S.
المساهمون: Weng, P. L., Majmundar, A. J., Khan, K., Lim, T. Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D. F., Aggarwal, V. S., Bier, L. E., Heinzen, E. L., Onuchic-Whitford, A. C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T. M., Klambt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B. B., Altmuller, J., Benz, M. R., Yano, S., Mikati, M. A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., Abumaziad, A. S., Martinez-Agosto, J. A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A. V., Parboosingh, J. S., Innes, A. M., Bierzynska, A., Koziell, A. B., Muorah, M., Saleem, M. A., Hoefele, J., Riedhammer, K. M., Gharavi, A. G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E. G., O'Donnell-Luria, A., Rehm, H. L., Mane, S., D'Agati, V. D., Pollak, M. R., Ghiggeri, G. M., Lifton, R. P., Goldstein, D. B., Davis, E. E., Hildebrandt, F., Sanna-Cherchi, S.
مصطلحات موضوعية: epilepsy, FSGS, genomic, monogenic, nuclear body, SRNS, TRIM8, Adult, Animal, Carrier Protein, Cell Line, Child, Preschool, Codon, Nonsense, Developmental Disabilitie, Female, Glomerulosclerosis, Focal Segmental, Human, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Protein, Phenotype, Podocyte, Whole Exome Sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000629135400014; volume:108; issue:2; firstpage:357; lastpage:367; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11381/2911490Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100403617
الإتاحة: https://doi.org/10.1016Test/j.ajhg.2021.01.008
http://hdl.handle.net/11381/2911490Test