المؤلفون: Ebarasi, L, Ashraf, S, Bierzynska, A, Gee, HY, McCarthy, HJ, Lovric, S, Sadowski, CE, Pabst, W, Vega-Warner, V, Fang, H, Koziell, A, Simpson, MA, Dursun, I, Serdaroglu, E, Levy, S, Saleem, MA, Hildebrandt, F, Majumdar, A

المصدر: American journal of human genetics. 96(1):153-161

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130593513

المؤلفون: Brancati F., Camerota L., Colao E., Vega-Warner V., Zhao X., Zhang R., Bottillo I., Castori M., Caglioti A., Sangiuolo F., Novelli G., Perrotti N., Otto E. A., Taruscio D., Salvatore M., De Stefano M. C., Censi F., Floridia G., Daina E., Iatropoulos P., Ferlini A., Roccatello D., Neri M., Menegatti E., Bembi B.

المساهمون: Brancati, F., Camerota, L., Colao, E., Vega-Warner, V., Zhao, X., Zhang, R., Bottillo, I., Castori, M., Caglioti, A., Sangiuolo, F., Novelli, G., Perrotti, N., Otto, E. A., Taruscio, D., Salvatore, M., De Stefano, M. C., Censi, F., Floridia, G., Daina, E., Iatropoulos, P., Ferlini, A., Roccatello, D., Neri, M., Menegatti, E., Bembi, B.

مصطلحات موضوعية: Adult, Codon, Nonsense, Heterozygote, Human, Hypopituitarism, Male, Membrane Protein, Mutation, Missense, RNA Splicing, Retinitis Pigmentosa, Allele, Phenotype

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29891882; info:eu-repo/semantics/altIdentifier/wos/WOS:000443154200005; volume:26; issue:9; firstpage:1266; lastpage:1271; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11392/2408116; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048351764; https://www.nature.com/articles/s41431-018-0183-6; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343/pdf/41431_2018_Article_183.pdf; https://iris.unito.it/retrieve/handle/2318/1675054/478986/17105_0_merged_1509173872.pdf

الاتاحة: http://hdl.handle.net/11392/2408116
https://doi.org/10.1038/s41431-018-0183-6
https://www.nature.com/articles/s41431-018-0183-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343/pdf/41431_2018_Article_183.pdf
https://iris.unito.it/retrieve/handle/2318/1675054/478986/17105_0_merged_1509173872.pdf

المؤلفون: El Saghir, Jamal, Berthier, Celine C., Lassé, Moritz, Fischer, Matthew, Minakawa, Akihiro, Vega-Warner, V., Menon, Rajasree, Rinschen, Markus M., Kretzler, Matthias, Harder, Jennifer L.

المصدر: Journal of the American Society of Nephrology ; volume 34, issue 11S, page 1008-1008 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20233411s11008a
https://journals.lww.com/10.1681/ASN.20233411S11008a

المؤلفون: Minakawa, Akihiro, Berthier, Celine C., Fischer, Matthew, El Saghir, Jamal, Vega-Warner, V., Menon, Rajasree, Hartman, John R., Eichinger, Felix H., Schaub, Jennifer A., Kretzler, Matthias, Harder, Jennifer L.

المصدر: Journal of the American Society of Nephrology ; volume 34, issue 11S, page 591-591 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20233411s1591c
https://journals.lww.com/10.1681/ASN.20233411S1591c

المؤلفون: Lopez Rivera, E., Liu, Y. P., Verbitsky, M., Anderson, B. R., Capone, V. P., Otto, E. A., Yan, Z., Mitrotti, A., Martino, J., Steers, N. J., Fasel, D. A., Vukojevic, K., Deng, R., Racedo, S. E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G. S., Bodria, M., Sampson, M. G., Gillies, C. E., Vega Warner, V., Maiorana, M., Petrey, D. S., Honig, B., Lozanovski, V. J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Van Wijk, J. A. E., Arapovic, A., Saraga Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald McGinn, D. M., Crowley, T. B., Zackai, E. H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J. M., Puri, P., Barton, D., Casolari, E., Furth, S. L., Warady, B. A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos Bielenska, A., Materna Kiryluk, A., Allegri, L., Wong, C. S., Drummond, I. A., D'Agati, V., Imamoto, A., Barasch, J. M., Hildebrandt, F., Kiryluk, K., Lifton, R. P., Morrow, B. E., Jeanpierre, C., Papaioannou, V. E., Ghiggeri, G. M., Gharavi, A. G., Katsanis, N., Sanna Cherchi, S., IZZI, CLAUDIA, SCOLARI, Francesco

المساهمون: Lopez Rivera E., Liu Y. P., Verbitsky M., Anderson B. R., Capone V. P., Otto E. A., Yan Z., Mitrotti A., Martino J., Steers N. J., Fasel D. A., Vukojevic K., Deng R., Racedo S. E., Liu Q., Werth M., Westland R., Vivante A., Makar G. S., Bodria M., Sampson M. G., Gillies C. E., Vega Warner V., Maiorana M., Petrey D. S., Honig B., Lozanovski V. J., Salomon R., Heidet L., Carpentier W., Gaillard D., Carrea A., Gesualdo L., Cusi D., Izzi Claudia, Scolari Francesco, Van Wijk J. A. E., Arapovic A., Saraga Babic M., Saraga M., Kunac N., Samii A., McDonald McGinn D. M., Crowley T. B., Zackai E. H., Drozdz D., Miklaszewska M., Tkaczyk M., Sikora P., Szczepanska M., Mizerska Wasiak M., Krzemien G., Szmigielska A., Zaniew M., Darlow J. M., Puri P., Barton D., Casolari E., Furth S. L., Warady B. A., Gucev Z., Hakonarson H., Flogelova H., Tasic V., Latos Bielenska A., Materna Kiryluk A., Allegri L., Wong C. S., Drummond I. A., D'Agati V., Imamoto A., Barasch J. M., Hildebrandt F., Kiryluk K., Lifton R. P., Morrow B. E., Jeanpierre C., Papaioannou V. E., Ghiggeri G. M., Gharavi A. G., Katsanis N., Sanna Cherchi S.

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adolescent, Animal, Child, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Exome, Female, Heterozygote, Infant, Newborn, Kidney, Male, Mice, Models, Nuclear Protein, Sequence Analysis, DNA, Urinary Tract, Young Adult, Zebrafish, Chromosome Deletion, Haploinsufficiency, Medicine (all)

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28121514; info:eu-repo/semantics/altIdentifier/wos/WOS:000395627900007; volume:376; issue:8; firstpage:742; lastpage:754; numberofpages:13; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11379/492197; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85012836815

الاتاحة: http://hdl.handle.net/11379/492197
https://doi.org/10.1056/NEJMoa1609009
http://www.nejm.org/doi/pdf/10.1056/NEJMoa1609009

المؤلفون: Fischer, Matthew, Lassé, Moritz, Eddy, Sean, El Saghir, Jamal, Vega-Warner, V., Kretzler, Matthias, Rinschen, Markus M., Harder, Jennifer L.

المصدر: Journal of the American Society of Nephrology ; volume 33, issue 11S, page 169-169 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20223311s1169b
https://journals.lww.com/10.1681/ASN.20223311S1169b

المؤلفون: Minakawa, Akihiro, Fischer, Matthew, Saghir, Jamal El, He, Chenchen, Vega-Warner, V., Hartman, John R., Eichinger, Felix H., Schaub, Jennifer A., Pennathur, Subramaniam, Kretzler, Matthias, Harder, Jennifer L.

المصدر: Journal of the American Society of Nephrology ; volume 33, issue 11S, page 597-597 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20223311s1597b
https://journals.lww.com/10.1681/ASN.20223311S1597b

المؤلفون: HEERINGA SF, CHERNIN G, CHAKI M, ZHOU W, SLOAN AJ, JI Z, XIE LX, SALVIATI, LEONARDO, HURD TW, VEGA WARNER V, KILLEN PD, RAPHAEL Y, ASHRAF S, OVUNC B, SCHOEB DS, MCLAUGHLIN HM, AIRIK R, VLANGOS CN, GBADEGESIN R, HINKES B, SAISAWAT P, TREVISSON, EVA, DOIMO, MARA, CASARIN, ALBERTO, PERTEGATO V, GIORGI G, PROKISCH H, RÖTIG A, NÃœRNBERG G, BECKER C, WANG S, OZALTIN F, TOPALOGLU R, BAKKALOGLU A, BAKKALOGLU SA, MÃœLLER D, BEISSERT A, MIR S, BERDELI A, VARPIZEN S, ZENKER M, MATEJAS V, SANTOS OCAÑA C, NAVAS P, KUSAKABE T, KISPERT A, AKMAN S, SOLIMAN NA, KRICK S, MUNDEL P, REISER J, NÃœRNBERG P, CLARKE CF, WIGGINS RC, FAUL C, HILDEBRANDT F.

المساهمون: Heeringa, Sf, Chernin, G, Chaki, M, Zhou, W, Sloan, Aj, Ji, Z, Xie, Lx, Salviati, Leonardo, Hurd, Tw, VEGA WARNER, V, Killen, Pd, Raphael, Y, Ashraf, S, Ovunc, B, Schoeb, D, Mclaughlin, Hm, Airik, R, Vlangos, Cn, Gbadegesin, R, Hinkes, B, Saisawat, P, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, V, Giorgi, G, Prokisch, H, Rã–tig, A, Nãœrnberg, G, Becker, C, Wang, S, Ozaltin, F, Topaloglu, R, Bakkaloglu, A, Bakkaloglu, Sa, Mãœller, D, Beissert, A, Mir, S, Berdeli, A, Varpizen, S, Zenker, M, Matejas, V, SANTOS OCAÑA, C, Navas, P, Kusakabe, T, Kispert, A, Akman, S, Soliman, Na, Krick, S, Mundel, P, Reiser, J, Nãœrnberg, P, Clarke, Cf, Wiggins, Rc, Faul, C, Hildebrandt, F.

مصطلحات موضوعية: COQ6, Coenzyme Q10 deficiency, nephrotic syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21540551; info:eu-repo/semantics/altIdentifier/wos/WOS:000290246800035; volume:121; issue:5; firstpage:2013; lastpage:2024; numberofpages:12; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11577/155488; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955520308

الاتاحة: http://hdl.handle.net/11577/155488
https://doi.org/10.1172/JCI45693

المؤلفون: Ashraf, S., Gee, H.Y., Woerner, S., Xie, L.T.X., Vega-Warner, V., Lovric, S., Fang, H., Song, X.W., Cattran, D.C., Avila-Casado, C., Paterson, A.D., Nitschke, P., Bole-Feysot, C., Cochat, P., Esteve-Rudd, J., Haberberger, B., Allen, S.J., Zhou, W.B., Airik, R., Otto, E.A., Barua, M., Al-Hamed, M.H., Kari, J.A., Evans, J., Bierzynska, A., Saleem, M.A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D.O., Gok, F., Washburn, J., Wiggins, R.C., Choi, M., Lifton, R.P., Levy, S., Han, Z.G., Salviati, L., Prokisch, H., Williams, D.S., Pollak, M., Clarke, C.F., Pei, Y., Antignac, C., Hildebrandt, F.

المصدر: J. Clin. Invest. 123, 5179-5189 (2013)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/24270420; info:eu-repo/semantics/altIdentifier/wos/WOS:000327826100024; info:eu-repo/semantics/altIdentifier/isbn/0021-9738; info:eu-repo/semantics/altIdenti; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=28840; urn:isbn:0021-9738; urn:issn:0021-9738; urn:issn:1558-8238

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=28840
https://doi.org/10.1172/JCI69000

المؤلفون: Afshinnia, F., Vega-Warner, V., Killen, P.

المصدر: Clinical Kidney Journal ; volume 6, issue 2, page 208-210 ; ISSN 2048-8505 2048-8513

الاتاحة: https://doi.org/10.1093/ckj/sft010
http://academic.oup.com/ckj/article-pdf/6/2/208/1087584/sft010.pdf

المؤلفون: Hildebrandt, F., Heeringa, S.F., Rueschendorf, F., Attanasio, M., Nuernberg, G., Becker, C., Seelow, D., Huebner, N., Chernin, G., Vlangos, C.N., Zhou, W., O'Toole, J.F., Hoskins, B.E., Wolf, M.T., Hinkes, B.G., Chaib, H., Ashraf, S., Allen, S.J., Vega-Warner, V., Wise, E., Harville, H.M., Lyons, R.H., Washburn, J., Macdonald, J., Nuernberg, P., Otto, E.A.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

وصف الملف: application/pdf

Relation: http://edoc.mdc-berlin.de/9908/1/9908oa.pdf; A systematic approach to mapping recessive disease genes in individuals from outbred populations. Hildebrandt, F. and Heeringa, S.F. and Rueschendorf, F. and Attanasio, M. and Nuernberg, G. and Becker, C. and Seelow, D. and Huebner, N. and Chernin, G. and Vlangos, C.N. and Zhou, W. and O'Toole, J.F. and Hoskins, B.E. and Wolf, M.T. and Hinkes, B.G. and Chaib, H. and Ashraf, S. and Allen, S.J. and Vega-Warner, V. and Wise, E. and Harville, H.M. and Lyons, R.H. and Washburn, J. and Macdonald, J. and Nuernberg, P. and Otto, E.A. PLoS Genetics 5 (1): e1000353. 23 January 2009

الاتاحة: http://edoc.mdc-berlin.de/9908/
https://edoc.mdc-berlin.de/9908/
http://edoc.mdc-berlin.de/9908/1/9908oa.pdf
https://doi.org/10.1371/journal.pgen.1000353

المؤلفون: Yee, Jennifer Lai, Jia, Xiaoyan, Vega-Warner, V., Sampson, Matt G., Kitzman, Jacob O.

المصدر: Journal of the American Society of Nephrology ; volume 31, issue 10S, page 617-617 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.20203110s1617a
https://journals.lww.com/10.1681/ASN.20203110S1617a

المؤلفون: Zenker, M, SRNS, Study, Hildebrandt, F, Soliman, NA, Fathy, HM, Mueller, D, Kemper, MJ, Ashraf, S, Kari, JA, El-Desoky, S, Bockenhauer, D, Lifton, RP, Fessi, I, Shril, S, Tan, W, Somers, MJ, Halbritter, J, Fang, H, Vega-Warner, V, Engelmann, S, Kohl, S, Sadowski, CE, Lovric, S, Gee, HY, Pabst, WL

Relation: 9827083a-9a70-4831-a02c-9baa7f7be7a8; https://avesis.erciyes.edu.tr/publication/details/9827083a-9a70-4831-a02c-9baa7f7be7a8/oai

الاتاحة: https://doi.org/10.1681/asn.2014050489
https://avesis.erciyes.edu.tr/publication/details/9827083a-9a70-4831-a02c-9baa7f7be7a8/oai

المؤلفون: Ashraf, S, Lovric, S, Fang, H, Vega-Warner, V, Sadowski, CE, Gee, HY, Halbritter, J, Saisawat, P, Soliman, NA, Kari, JA, Otto, EA, Hildebrandt, F, Nephrotic, Syndrome

Relation: 7723b8a0-fb8d-42ea-97e4-a129f53cd95d; https://avesis.erciyes.edu.tr/publication/details/7723b8a0-fb8d-42ea-97e4-a129f53cd95d/oai

الاتاحة: https://doi.org/10.2215/cjn.09010813
https://avesis.erciyes.edu.tr/publication/details/7723b8a0-fb8d-42ea-97e4-a129f53cd95d/oai

المؤلفون: Ashraf S, Gee HY, Woerner S, Xie LTX, Vega-Warner V, Lovric S, Fang H, Song XW, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou WB, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F

المصدر: Journal of Clinical Investigation, 01-12-2013

Relation: https://eprints.ncl.ac.uk/200045

الاتاحة: https://eprints.ncl.ac.uk/200045

المؤلفون: Kerti, Andrea, Csohány, Rózsa, Szabó, Attila, Arkossy O, Sallay, Péter, Moriniere V, Vega-Warner V, Nyírő, Gábor, Lakatos, Orsolya Judit, Szabó, Tamás, Lipska BS, Schaefer F, Antignac C, Reusz, György, Tulassay, Tivadar, Tory, Kálmán

المساهمون: SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika, Pécsi Tudományegyetem, SE/AOK/I/Genomikai Medicina és Ritka Betegségek Intézete, Semmelweis Egyetem

Relation: urn:issn:0931-041X; http://repo.lib.semmelweis.hu//handle/123456789/1038; 2167718; 000316571400010

الاتاحة: http://repo.lib.semmelweis.hu//handle/123456789/1038
https://doi.org/10.1007/s00467-012-2379-2

المؤلفون: Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D., Avila Casado, C., Paterson, A. D., Nitschke, P., Cochat, C. Bole F. e. y. s. o. t. P., Esteve Rudd, J., Haberberger, B., Allen, S. J., Zhou, W., Airik, R., Otto, E. A., Barua, M., Al Hamed, M. H., Kari, J. A., Evans, J., Bierzynska, A., Saleem, M. A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D. O., Gok, F., Wiggins, R. C., Lifton, M. C. h. o. i. R. P., Levy, S., Han, Z., Salviati, Leonardo, Prokisch, H., Williams, D. S., Pollak, M., Clarke, C. F., Pei, Y., Antignac, C., Hildebrandt, F.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::10d7b6b4f70d617e0cde49b0f95fd3a8
http://hdl.handle.net/11577/2683930

المؤلفون: Vega-Warner, V, Merkel, R.A, Smith, D.M

المصدر: Meat Science ; volume 51, issue 3, page 197-203 ; ISSN 0309-1740

الاتاحة: http://dx.doi.org/10.1016/s0309-1740(98)00101-6
https://api.elsevier.com/content/article/PII:S0309174098001016?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0309174098001016?httpAccept=text/plain

المؤلفون: Heeringa, S F, Chernin, G, Chaki, M, Zhou, W, Sloan, A J, Ji, Z, Xie, L X, Salviati, L, Hurd, T W, Vega-Warner, V, Killen, P D, Raphael, Y, Ashraf, S, Ovunc, B, Schoeb, D S, McLaughlin, H M, Airik, R, Vlangos, C N, Gbadegesin, R, Hinkes, B, Saisawat, P, Trevisson, E, Doimo, M, Casarin, A, Pertegato, V, Giorgi, G, Prokisch, H, Rötig, A, Nürnberg, G, Becker, C, Wang, S, Ozaltin, F, Topaloglu, R, Bakkaloglu, A, Bakkaloglu, S A, Müller, D, Beissert, A, Mir, S, Berdeli, A, Varpizen, S, Zenker, M, Matejas, V, Santos-Ocaña, C, Navas, P, Kusakabe, T, Kispert, A, Akman, S, Soliman, N A, Krick, S, Mundel, P, Reiser, J, Nürnberg, P, Clarke, C F, Wiggins, R C, Faul, C, Hildebrandt, F

المصدر: Heeringa, S F; Chernin, G; Chaki, M; Zhou, W; Sloan, A J; Ji, Z; Xie, L X; Salviati, L; Hurd, T W; Vega-Warner, V; Killen, P D; Raphael, Y; Ashraf, S; Ovunc, B; Schoeb, D S; McLaughlin, H M; Airik, R; Vlangos, C N; Gbadegesin, R; Hinkes, B; Saisawat, P; Trevisson, E; Doimo, M; Casarin, A; Pertegato, V; Giorgi, G; Prokisch, H; Rötig, A; Nürnberg, G; Becker, C; Wang, S; Ozaltin, F; Topaloglu, R; Bakkaloglu, A; Bakkaloglu, S A; Müller, D; Beissert, A; Mir, S; Berdeli, A; Varpizen, S; Zenker, M; Matejas, V; Santos-Ocaña, C; Navas, P; Kusakabe, T; Kispert, A; Akman, S; Soliman, N A; Krick, S; Mundel, P; Reiser, J; Nürnberg, P; Clarke, C F; Wiggins, R C; Faul, C; Hildebrandt, F (2011). COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Journal of Clinical Investigation, 121(5):2013-2024.

مصطلحات الفهرس: Clinic and Policlinic for Internal Medicine, 610 Medicine & health, Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://www.zora.uzh.ch/id/eprint/59296/
https://www.zora.uzh.ch/id/eprint/59296
10.1172/JCI45693

المؤلفون: Montgomery E, Sayer JA, Baines LA, Hynes AM, Vega-Warner V, Johnson S, Goodship JA, Otto EA

المصدر: BMC Medical Genetics

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/220239; https://eprints.ncl.ac.uk/fulltext.aspx?url=220239/4BC0E538-00A3-4763-BD6B-62570E64175D.pdf&pub_id=220239

الاتاحة: https://eprints.ncl.ac.uk/220239