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/

الإتاحة: 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/

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

العلاقة: https://repository.ubn.ru.nl/handle/2066/304545Test

الإتاحة: https://doi.org/10.1016Test/j.kint.2023.11.032
https://repository.ubn.ru.nl/handle/2066/304545Test

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

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

الإتاحة: https://doi.org/10.1038/s41431-022-01075-0Test
http://hdl.handle.net/11343/306312Test

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10154002/1/1-s2.0-S2468024922014371-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10154002Test/

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10153679Test/

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

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

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

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