المؤلفون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B. B., Wenzel A., Tory K., Haeffner K., Wolf M. T. F., Bleyer M. E., Sayer J. A., Ong A. C. M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R. M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L. R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A. J.

المساهمون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B.B., Wenzel A., Tory K., Haeffner K., Wolf M.T.F., Bleyer M.E., Sayer J.A., Ong A.C.M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R.M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L.R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A.J.

مصطلحات موضوعية: autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32750457; info:eu-repo/semantics/altIdentifier/wos/WOS:000596506000030; volume:98; issue:6; firstpage:1589; lastpage:1604; numberofpages:16; journal:KIDNEY INTERNATIONAL; https://hdl.handle.net/11585/963228; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383; https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract

الاتاحة: https://hdl.handle.net/11585/963228
https://doi.org/10.1016/j.kint.2020.06.041
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383
https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract

المؤلفون: Bolar, N.A., Golzio, C., Zivna, M., Hayot, G., Hemelrijk, C. van, Schepers, D., Vandeweyer, G., Hoischen, A., Huyghe, J.R., Raes, A., Matthys, E., Sys, E., Azou, M., Gubler, M.C., Praet, M., Van Camp, G., McFadden, K., Pediaditakis, I., Pristoupilova, A., Hodanova, K., Vyletal, P., Hartmannova, H., Stranecky, V., Hulkova, H., Baresova, V., Jedlickova, I., Sovova, J., Hnizda, A., Kidd, K., Bleyer, A.J., Spong, R.S., Vande Walle, J., Mortier, G., Brunner, H.G., Van Laer, L., Kmoch, S., Katsanis, N., Loeys, B.L.

المصدر: American Journal of Human Genetics, 99, 1, pp. 174-87

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf; http://hdl.handle.net/2066/167296

الاتاحة: http://hdl.handle.net/2066/167296
https://repository.ubn.ru.nl//bitstream/handle/2066/167296/167296.pdf
https://doi.org/10.1016/j.ajhg.2016.05.028

المؤلفون: Vyletal, P, Sokolova, J, Cooper, DN, Kraus, JP, Krawczak, M, Pepe, G, Koch, HG, Linnebank, M, Kluijtmans, LAJ, Blom, J, Boers, GHJ, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, DEL, Andria, G, Sebastio, G, Naughten, ER, Yap, S, Ohura, T, Pronicka, E, Laszlo, A, Kozich, V., RICKARDS, OLGA

المساهمون: Vyletal, P, Sokolova, J, Cooper, D, Kraus, J, Krawczak, M, Pepe, G, Rickards, O, Koch, H, Linnebank, M, Kluijtmans, L, Blom, J, Boers, G, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, D, Andria, G, Sebastio, G, Naughten, E, Yap, S, Ohura, T, Pronicka, E, Laszlo, A, Kozich, V

مصطلحات موضوعية: CBS, Cystathionine beta-synthase, Gene conversion, Haplotype, Homocysteine, Homocystinuria, Pyridoxal 5′phosphate, Settore BIO/18 - GENETICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/17072863; info:eu-repo/semantics/altIdentifier/wos/WOS:000244099500005; volume:28; issue:3; firstpage:255; lastpage:264; journal:HUMAN MUTATION; http://hdl.handle.net/2108/34833; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33847229436

الاتاحة: http://hdl.handle.net/2108/34833
https://doi.org/10.1002/humu.20430

المؤلفون: VYLETAL P, SOKOLOV J, COOPER DN, KRAUS JP, KRAWCZAK M, PEPE G, RICKARDS O, KOCH HG, LINNEBANK M, KLUIJTMANS LA, BLOM HJ, BOERS GH, GAUSTADNES M, SKOVBY F, WILCKEN B, WILCKEN DE, NAUGHTEN ER, YAP S, OHURA T, PRONICKA E, LASZLO A, KOZICH V., ANDRIA, GENEROSO, SEBASTIO, GIANFRANCO

المساهمون: Vyletal, P, Sokolov, J, Cooper, Dn, Kraus, Jp, Krawczak, M, Pepe, G, Rickards, O, Koch, Hg, Linnebank, M, Kluijtmans, La, Blom, Hj, Boers, Gh, Gaustadnes, M, Skovby, F, Wilcken, B, Wilcken, De, Andria, Generoso, Sebastio, Gianfranco, Naughten, Er, Yap, S, Ohura, T, Pronicka, E, Laszlo, A, Kozich, V.

وصف الملف: STAMPA

Relation: volume:28; issue:3; firstpage:255; lastpage:264; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/11588/153532

الاتاحة: http://hdl.handle.net/11588/153532

المؤلفون: Kublova, M, Vyletal, P, Hodanova, K, Kalbacova, M, Sikora, J, Hulkova, H, Zivny, J, Majewski, J, Marinaki, A, Simmonds, A, Fryns, Jean-Pierre, Venkel-Raman, G, Kmoch, S

Relation: European Journal of Human Genetics vol:13 issue:suuppl 1 pages:286-286; European Human Genetics Conference 2005 location:Prague, Czech Republic date:7-10 May 2005; https://lirias.kuleuven.be/handle/123456789/271030

الاتاحة: https://lirias.kuleuven.be/handle/123456789/271030

المؤلفون: Bleyer, A. J., Kmoch, S., Antignac, C., Robins, V., Kidd, K., Kelsoe, J. R., Hladik, G., Klemmer, P., Knohl, S. J., Scheinman, S. J., Vo, N., Santi, A., Harris, A., Canaday, O., Weller, N., Hulick, P. J., Vogel, K., Rahbari-Oskoui, F. F., Tuazon, J., Constantinou-Deltas, Constantinos D., Somers, D., Megarbane, A., Kimmel, P. L., Sperati, C. J., Orr-Urtreger, A., Ben-Shachar, S., Waugh, D. A., Mcginn, S., Bleyer Jr., A. J., Hodaňová, K., Vyletal, P., Živná, M., Hart, T. C., Hart, P. S.

المساهمون: Constantinou-Deltas, Constantinos D. 0000-0001-5549-9169

المصدر: Clinical Journal of the American Society of Nephrology ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-84896813347&doi=10.2215%2fCJN.06380613&partnerID=40&md5=9f2fc8eed946039880ebb34f267bd55d ; Clin.J.Am.Soc.Nephrol.

مصطلحات موضوعية: Age Factors, article, Young Adult, human, Aged, Humans, adult, female, major clinical study, Disease Progression, Retrospective Studies, Time Factors, male, Genetic Predisposition to Disease, Risk Factors, Risk Assessment, middle aged, urinalysis, gene mutation, Mutation, mutational analysis, Adolescent, genetic analysis, Registries, DNA Mutational Analysis, mucin 1, glomerulus filtration rate, Phenotype, Gene-Environment Interaction, 80 and over

Relation: http://gnosis.library.ucy.ac.cy/handle/7/52951

الاتاحة: http://gnosis.library.ucy.ac.cy/handle/7/52951
https://doi.org/10.2215/CJN.06380613

المؤلفون: Vyletal, P., Sokolova, J., Cooper, D.N., Kraus, J.P., Krawczak, M., Pepe, G., Rickards, O, Koch, H.G., Linnebank, M., Kluijtmans, L.A.J., Blom, H.J., Boers, G.H.J., Gaustadnes, M., Skovby, F., Wilcken, B., Wilcken, D.E.L., Andria, G., Sebastio, G., Naughten, E.R., Yap, S., Ohura, T., Pronicka, E., Laszlo, A., Kozich, V.

المصدر: Human Mutation; 255; 64; 1059-7794; 3; 28; ~Human Mutation~255~64~~~1059-7794~3~28~~

URL: http://hdl.handle.net/2066/52383
https://doi.org/10.1002/humu.20430