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1دورية أكاديمية
المؤلفون: Barry A., McNulty M. T., Jia X., Gupta Y., Debiec H., Luo Y., Nagano C., Horinouchi T., Jung S., Colucci M., Ahram D. F., Mitrotti A., Sinha A., Teeninga N., Jin G., Shril S., Caridi G., Bodria M., Lim T. Y., Westland R., Zanoni F., Marasa M., Turudic D., Giordano M., Gesualdo L., Magistroni R., Pisani I., Fiaccadori E., Reiterova J., Maringhini S., Morello W., Montini G., Weng P. L., Scolari F., Saraga M., Tasic V., Santoro D., van Wijk J. A. E., Milosevic D., Kawai Y., Kiryluk K., Pollak M. R., Gharavi A., Lin F., Simoes e Silva A. C., Loos R. J. F., Kenny E. E., Schreuder M. F., Zurowska A., Dossier C., Ariceta G., Drozynska-Duklas M., Hogan J., Jankauskiene A., Hildebrandt F., Prikhodina L., Song K., Bagga A., Cheong H., Ghiggeri G. M., Vachvanichsanong P., Nozu K., Lee D., Vivarelli M., Raychaudhuri S., Tokunaga K., Sanna-Cherchi S., Ronco P., Iijima K., Sampson M. G.
المساهمون: A. Barry, M.T. Mcnulty, X. Jia, Y. Gupta, H. Debiec, Y. Luo, C. Nagano, T. Horinouchi, S. Jung, M. Colucci, D.F. Ahram, A. Mitrotti, A. Sinha, N. Teeninga, G. Jin, S. Shril, G. Caridi, M. Bodria, T.Y. Lim, R. Westland, F. Zanoni, M. Marasa, D. Turudic, M. Giordano, L. Gesualdo, R. Magistroni, I. Pisani, E. Fiaccadori, J. Reiterova, S. Maringhini, W. Morello, G. Montini, P.L. Weng, F. Scolari, M. Saraga, V. Tasic, D. Santoro, J.A.E. van Wijk, D. Milosevic, Y. Kawai, K. Kiryluk, M.R. Pollak, A. Gharavi, F. Lin, A.C. Simoes e Silva, R.J.F. Loo, E.E. Kenny, M.F. Schreuder, A. Zurowska, C. Dossier, G. Ariceta, M. Drozynska-Dukla, J. Hogan, A. Jankauskiene, F. Hildebrandt, L. Prikhodina, K. Song, A. Bagga, H. Cheong, G.M. Ghiggeri, P. Vachvanichsanong, K. Nozu, D. Lee, M. Vivarelli, S. Raychaudhuri, K. Tokunaga, S. Sanna-Cherchi, P. Ronco, K. Iijima, M.G. Sampson
مصطلحات موضوعية: Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37120605; info:eu-repo/semantics/altIdentifier/wos/WOS:001022903400013; volume:14; issue:1; firstpage:1; lastpage:13; numberofpages:13; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/2434/970116Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85156168251
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2دورية أكاديمية
المؤلفون: Klämbt, V., Buerger, F., Wang, C., Naert, Thomas, Richter, K., Nauth, T., Weiss, A. C., Sieckmann, T., Lai, E., Connaughton, D., Seltzsam, S., Mann, N., Majmundar, A., Wu, C. H., Onuchic-Whitford, A., Shril, S., Schneider, S., Schierbaum, L., Dai, R., Bekheirnia, M. R., Joosten, M., Shlomovitz, O., Vivante, A., Banne, E., Mane, S., Lifton, R. P., Kirschner, K., Kispert, A., Rosenberger, G., Fischer, K. D., Lienkamp, S., Zegers, M., Hildebrandt, F.
المصدر: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY ; ISSN: 1046-6673 ; ISSN: 1533-3450
مصطلحات موضوعية: Biology and Life Sciences, CAKUT, monogenic kidney disease, development, pediatric, urinary tract, REGULATES BRANCHING MORPHOGENESIS, NUCLEOTIDE EXCHANGE FACTORS, INTEGRIN-LINKED KINASE, MDCK CELL-CULTURE, ALPHA-PIX, EXTRACELLULAR-MATRIX, PROTEIN NEPHRONECTIN, INBRED MOUSE, MUTATIONS, SEQUENCE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21Test; http://hdl.handle.net/1854/LU-01GJQDNNQDMV8QSF4Y3RSB5V21Test; http://dx.doi.org/10.1681/asn.2022010050Test; https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21/file/01GJQDTCQ7G8KTD1HQRKXTKVKQTest
الإتاحة: https://doi.org/10.1681/asn.2022010050Test
https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21Test
http://hdl.handle.net/1854/LU-01GJQDNNQDMV8QSF4Y3RSB5V21Test
https://biblio.ugent.be/publication/01GJQDNNQDMV8QSF4Y3RSB5V21/file/01GJQDTCQ7G8KTD1HQRKXTKVKQTest -
3دورية أكاديمية
المؤلفون: MERTENS, N.D., Kano, K., Merz, L.M., El Desoky, S., A Kari, J., Gyung Kang, H., Cingöz, S., Shril, S., Aoki, J., Hildebrandt, F.
المصدر: Kidney International Reports ; volume 8, issue 3, page S242 ; ISSN 2468-0249
مصطلحات موضوعية: Nephrology
الإتاحة: https://doi.org/10.1016/j.ekir.2023.02.545Test
https://api.elsevier.com/content/article/PII:S2468024923005958?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024923005958?httpAccept=text/plainTest -
4دورية 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
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5دورية أكاديمية
المؤلفون: Majmundar, AJ, Buerger, F, Forbes, TA, Klambt, V, Schneider, R, Deutsch, K, Kitzler, TM, Howden, SE, Scurr, M, Tan, KS, Krzeminski, M, Widmeier, E, Braun, DA, Lai, E, Ullah, I, Amar, A, Kolb, A, Eddy, K, Chen, CH, Salmanullah, D, Dai, R, Nakayama, M, Ottlewski, I, Kolvenbach, CM, Onuchic-Whitford, AC, Mao, Y, Mann, N, Nabhan, MM, Rosen, S, Forman-Kay, JD, Soliman, NA, Heilos, A, Kain, R, Aufricht, C, Mane, S, Lifton, RP, Shril, S, Little, MH, Hildebrandt, F
العلاقة: pii: 7/1/eabe1386; Majmundar, A. J., Buerger, F., Forbes, T. A., Klambt, V., Schneider, R., Deutsch, K., Kitzler, T. M., Howden, S. E., Scurr, M., Tan, K. S., Krzeminski, M., Widmeier, E., Braun, D. A., Lai, E., Ullah, I., Amar, A., Kolb, A., Eddy, K., Chen, C. H. ,. Hildebrandt, F. (2021). Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. SCIENCE ADVANCES, 7 (1), https://doi.org/10.1126/sciadv.abe1386Test.; http://hdl.handle.net/11343/273896Test
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6دورية أكاديمية
المؤلفون: Connaughton, D., Dai, R., Owen, D., Marquez, J., Mann, N., Graham-Paquin, A., Nakayama, M., Coyaud, E., Laurent, E., St-Germain, J., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C., Kolvenbach, C., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T., Majmundar, A., Buerger, F., Onuchic-Whitford, A., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Van der Ven, A., Rao, J., Ityel, H., Seltzsam, S., Rieke, J., Chen, J., Vivante, A., Hwang, D., Kohl, S., Dworschak, G., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S., Baum, M., Brilstra, E., Challman, T., Zyskind, J., Costin, C., Dipple, K., Duijkers, F., Ferguson, M., Fitzpatrick, D., Fick, R., Glass, I., Hulick, P., Kline, A., Krey, I., Kumar, S., Lu, W., Marco, E., Wentzensen, I., Mefford, H., Platzer, K., Povolotskaya, I., Savatt, J., Shcherbakova, N., Senguttuvan, P., Squire, A., Stein, D., Thiffault, I., Voinova, V., Somers, M., Traum, A., Daouk, G., Daga, A., Rodig, N., Terhal, P., Van Binsbergen, E., Eid, L., Tasic, V., Rasouly, H., Lim, T., Ahram, D., Gharavi, A., Reutter, H., Rehm, H., MacArthur, D., Lek, M., Laricchia, K., Lifton, R., Xu, H., Mane, S., Sanna-Cherchi, S., Sharrocks, A., Raught, B., Fisher, S., Bouchard, M., Khokha, M., Shril, S., Hildebrandt, F.
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
العلاقة: http://hdl.handle.net/21.11116/0000-0006-F601-3Test; http://hdl.handle.net/21.11116/0000-0006-F604-0Test; http://hdl.handle.net/21.11116/0000-0006-F605-FTest; http://hdl.handle.net/21.11116/0000-0006-F606-ETest; http://hdl.handle.net/21.11116/0000-0007-4E87-ATest
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.08.013Test
http://hdl.handle.net/21.11116/0000-0006-F601-3Test
http://hdl.handle.net/21.11116/0000-0006-F604-0Test
http://hdl.handle.net/21.11116/0000-0006-F605-FTest
http://hdl.handle.net/21.11116/0000-0006-F606-ETest
http://hdl.handle.net/21.11116/0000-0007-4E87-ATest -
7دورية أكاديمية
المؤلفون: Schneider, R., Deutsch, K., Hoeprich, G.J., Marquez, J., Hermle, T., Braun, D.A., Seltzsam, S., Kitzler, T.M., Mao, Y., Buerger, F., Majmundar, A.J., Onuchic-Whitford, A.C., Kolvenbach, C.M., Schierbaum, L., Schneider, S., Halawi, A.A., Nakayama, M., Mann, N., Connaughton, D.M., Klämbt, V., Wagner, M., Riedhammer, K.M., Renders, L., Katsura, Y., Thumkeo, D., Soliman, N.A., Mane, S., Lifton, R.P., Shril, S., Khokha, M.K., Hoefele, J., Goode, B.L., Hildebrandt, F.
المصدر: Am. J. Hum. Genet. 107, 1113-1128 (2020)
مصطلحات موضوعية: Actin Cytoskeleton, Daam2, Formins, Monogenic Kidney Diseases, Podocytopathy, Steroid-resistant Nephrotic Syndrome
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000596042000007; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; info:eu-repo/semanti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60786Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.008Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60786Test -
8دورية أكاديمية
المؤلفون: Braun, DA, Lovric, S, Schapiro, D, Schneider, R, Marquez, J, Asif, M, Hussain, MS, Daga, A, Widmeier, E, Rao, J, Ashraf, S, Tan, W, Lusk, CP, Kolb, A, Jobst-Schwan, T, Schmidt, JM, Hoogstraten, CA, Eddy, K, Kitzler, TM, Shril, S, Moawia, A, Schrage, K, Khayyat, AIA, Lawson, JA, Gee, HY, Warejko, JK, Hermle, T, Majmundar, AJ, Hugo, H, Budde, B, Motameny, S, Altmüller, J, Noegel, AA, Fathy, HM, Gale, DP, Waseem, SS, Khan, A, Kerecuk, L, Hashmi, S, Mohebbi, N, Ettenger, R, Serdaroğlu, E, Alhasan, KA, Hashem, M, Goncalves, S, Ariceta, G, Ubetagoyena, M, Antonin, W, Baig, SM, Alkuraya, FS, Shen, Q, Xu, H, Antignac, C, Lifton, RP, Mane, S, Nürnberg, P, Khokha, MK, Hildebrandt, F
المصدر: Journal of Clinical Investigation (2018)
مصطلحات موضوعية: Genetics, Monogenic diseases, Nephrology
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10055784/1/Gale_98688.1-20180831122255-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10055784Test/
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9دورية أكاديمية
المؤلفون: Warejko, JK, Tan, W, Daga, A, Schapiro, D, Lawson, JA, Shril, S, Lovric, S, Ashraf, S, Rao, J, Hermle, T, Jobst-Schwan, T, Widmeier, E, Majmundar, AJ, Schneider, R, Gee, HY, Schmidt, JM, Vivante, A, van der Ven, AT, Ityel, H, Chen, J, Sadowski, CE, Kohl, S, Pabst, WL, Nakayama, M, Somers, MJG, Rodig, NM, Daouk, G, Baum, M, Stein, DR, Ferguson, MA, Traum, AZ, Soliman, NA, Kari, JA, El Desoky, S, Fathy, H, Zenker, M, Bakkaloglu, SA, Mueller, D, Noyan, A, Ozaltin, F, Cadnapaphornchai, MA, Hashmi, S, Hopcian, J, Kopp, JB, Benador, N, Bockenhauer, D, Bogdanovic, R, Stajic, N, Chernin, G, Ettenger, R, Fehrenbach, H, Kemper, M, Munarriz, RL, Podracka, L, Buscher, R, Serdaroglu, E, Tasic, V, Mane, S, Lifton, RP, Braun, DA, Hildebrandt, F
المصدر: Clinical Journal of the American Society of Nephrology , 13 (1) pp. 53-62. (2018)
مصطلحات موضوعية: genetic renal disease, pediatric, molecular genetics, Child, Humans, Nephrosis, congenital, nephrotic syndrome, Exome, kidney transplantation, Mutation, Kidney Failure: Chronic, Renal Insufficiency: Chronic, Phenotype
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10042707/1/Warejko_Whole_Exome_Sequencing.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042707/7/Warejko_Whole_Exome_Sequencing_Suppl.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10042707Test/
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10
المؤلفون: A Kari, J., Hildebrandt, F., Shril, S., Cingöz, Sultan, Gyung Kang, H., Aoki, J., El Desoky, S., Merz, L.M., Kano, K., Mertens, N.D.
المصدر: Kidney International Reports. 8:S242
مصطلحات موضوعية: Nephrology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca47b47cc1949b53906257e790b5e441Test
https://doi.org/10.1016/j.ekir.2023.02.545Test
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