المؤلفون: Petit, Florence, Longoni, M., Wells, J., Maser, R. S., Bogenschutz, E. L., Dysart, M. J., Contreras, H. T. M., Frã©nois, F., Pober, B. R., Clark, R. D., Giampietro, P. F., Ropers, H. H., Hu, H., Loscertales, M., Wagner, R., Ai, X. B., Brand, H., Jourdain, A. S., Delrue, M. A., Gilbert-Dussardier, B., Devisme, L., Keren, B., Mcculley, D. J., Qiao, L., Hernan, R., Wynn, J., Scott, T. M., Calame, D. G., Coban-Akdemir, Z., Hernandez, P., Hernandez-Garcia, A., Yonath, H., Lupski, J. R., Shen, Y. F., Chung, W. K., Scott, D. A., Bult, C. J., Donahoe, P. K., High, F. A.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

العلاقة: Am. J. Hum. Genet.; http://hdl.handle.net/20.500.12210/93289Test

الإتاحة: https://doi.org/20.500.12210/93289Test
https://hdl.handle.net/20.500.12210/93289Test

المؤلفون: Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L

المساهمون: Ortiz-Genga, Mf, Cuenca, S, Dal Ferro, M, Zorio, E, Salgado-Aranda, R, Climent, V, Padrón-Barthe, L, Duro-Aguado, I, Jiménez-Jáimez, Hidalgo-Olivares, Vm, García-Campo, E, Lanzillo, C, Suárez-Mier, Mp, Yonath, H, Marcos-Alonso, S, Ochoa, Jp, Santomé, Jl, García-Giustiniani, D, Rodríguez-Garrido, Jl, Domínguez, F, Merlo, M, Palomino, J, Peña, Ml, Trujillo, Jp, Martín-Vila, A, Stolfo, D, Molina, P, Lara-Pezzi, E, Calvo-Iglesias, Fe, Nof, E, Calò, L, Barriales-Villa, Gimeno-Blanes, Jr, Arad, M, García-Pavía, P, Monserrat, L

مصطلحات موضوعية: filamin C, filaminopathy, genotype, prognosi, sudden death, ventricular arrhythmia

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27908349; info:eu-repo/semantics/altIdentifier/wos/WOS:000389592000007; volume:68; issue:22; firstpage:2440; lastpage:2451; numberofpages:12; journal:JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY; http://hdl.handle.net/11368/2966582Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84999622133; https://www.sciencedirect.com/science/article/pii/S0735109716364166?via=ihubTest

الإتاحة: https://doi.org/10.1016/j.jacc.2016.09.927Test
http://hdl.handle.net/11368/2966582Test
https://www.sciencedirect.com/science/article/pii/S0735109716364166?via=ihubTest

المؤلفون: Pikman R., Kivity S., Levy Y., Arango M.-T., Chapman J., Yonath H., Shoenfeld Y., Gofrit S.G.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Autoantibody, Belimumab, Brain antigen, Cardiolipin antibody, Complement, Complement inhibitor, Crry ig, Cyclophosphamide, Cytokine, Fisle 412 peptide, Hcdr1 peptide, Immunoglobulin, Intercellular adhesion molecule 1 antibody, N methyl dextro aspartic acid receptor antibody, N methyl dextro aspartic acid receptor nr2 antibody, P 140 peptide, Peptide fragment, Ribosomal p antibody, Unclassified drug, Vitamin d, Apoptosis, Article, Biological therapy, Blood brain barrier, Brain metabolism, Cell phagocytosis, Dietary supplement, Genetic susceptibility, Human, Immunoregulation

وصف الملف: application/pdf

العلاقة: https://repository.urosario.edu.co/handle/10336/22543Test; https://doi.org/10.1177/0961203317694261Test

الإتاحة: https://doi.org/10.1177/0961203317694261Test
https://repository.urosario.edu.co/handle/10336/22543Test

المؤلفون: Vivante, A, Mann, N, Yonath, H, Weiss, A-C, Getwan, M, Kaminski, MM, Bohnenpoll, T, Teyssier, C, Chen, J, Shril, S, van der Ven, AT, Ityel, H, Schmidt, JM, Widmeier, E, Bauer, SB, Sanna-Cherchi, S, Gharavi, AG, Lu, W, Magen, D, Shukrun, R, Lifton, RP, Tasic, V, Stanescu, HC, Cavaillès, V, Kleta, R, Anikster, Y, Dekel, B, Kispert, A, Lienkamp, SS, Hildebrandt, F

المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2364-2376. (2017)

مصطلحات موضوعية: CAKUT, NRIP1, retinoic acid

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1551010Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1551010Test/

المؤلفون: Hernandez P, Gilbert-Dussardier B, Boris Keren, Ai X, Eric L. Bogenschutz, J. Wells, Zeynep Coban-Akdemir, Julia Wynn, Frédéric Frénois, Contreras Htm, Lupski, Andres Hernandez-Garcia, Ropers Hh, Lu Qiao, Florence Petit, Yonath H, Richard S. Maser, Anne-Sophie Jourdain, Delrue M, Giampietro Pf, Clark Rd, Wendy K. Chung, Harrison Brand, McCulley D, Tiana M. Scott, Mauro Longoni, Bult Cj, Patricia K. Donahoe, Barbara R. Pober, Frances A. High, Rebecca Hernan, Maria Loscertales, Yufeng Shen, Daryl A. Scott, Devisme L, Dysart Mj, Daniel G. Calame, Hu H

مصطلحات موضوعية: Genetics, Stress fiber, PLS3, medicine, Missense mutation, Congenital diaphragmatic hernia, Biology, medicine.disease, Actin cytoskeleton, Phenotype, Exome, Actin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b87ddad8d2b0da56dd83ec489239f18Test
https://doi.org/10.1101/2021.07.07.21259278Test

المؤلفون: Kinori M, Moroz I, Rotenstreich Y, Yonath H, Fabian ID, Vishnevskia-Dai V

المصدر: Clinical Ophthalmology, Vol 2011, Iss default, Pp 1663-1665 (2011)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/bilateral-presumed-astrocytic-hamartomas-in-a-patient-with-retinitis-p-a8727Test; https://doaj.org/toc/1177-5467Test; https://doaj.org/toc/1177-5483Test

الوصول الحر: https://doaj.org/article/53b46422fdc94bda841502ff4fc57538Test

المؤلفون: Strahilevitz, J., Zellermayer, O., Vangel, M.G., Yonath, H., Feinberg, M.S., Rubinstein, E.

المصدر: Clinical Microbiology and Infection ; volume 11, issue 12, page 955-957 ; ISSN 1198-743X

مصطلحات موضوعية: Infectious Diseases, Microbiology (medical), General Medicine

الإتاحة: https://doi.org/10.1111/j.1469-0691.2005.01255.xTest
https://api.elsevier.com/content/article/PII:S1198743X14623892?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1198743X14623892?httpAccept=text/plainTest

المؤلفون: Shany Guly Gofrit, Pikman R, Shaye Kivity, Yair Levy, Joab Chapman, Yehuda Shoenfeld, Maria-Teresa Arango, Yonath H

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Brain antigen, 0301 basic medicine, Unclassified drug, Mouse, N methyl dextro aspartic acid receptor antibody, Apoptosis, Pathogenesis, Disease, Bioinformatics, Neuroendocrine system, Animals, Genetically Modified, Dietary supplement, Mice, Autoantibody, 0302 clinical medicine, Pathology, Lupus vasculitis, Medicine, Biological therapy, animal, Priority journal, P 140 peptide, Systemic lupus erythematosus, Vaccination, Lupus Vasculitis, Central Nervous System, genetically modified, Cardiolipin antibody, Animal models, Neuropsychiatric systemic lupus erythematosus, Transgenic animal, Blood brain barrier, N methyl dextro aspartic acid receptor nr2 antibody, Cytokines, Complement inhibitor, Human, Disease onset, medicine.drug_class, Complement, Genetic predisposition to disease, Lupus, Neuropsychiatric, Murphy roths large lymphoproliferative mouse, Disease models, Monoclonal antibody, Article, Intercellular adhesion molecule 1 antibody, Brain metabolism, 03 medical and health sciences, Animal model, Rheumatology, Immunoglobulin, Genetic susceptibility, Genetics, Animals, Humans, Genetic Predisposition to Disease, Cyclophosphamide, Cytokine, Fisle 412 peptide, Autoantibodies, Immune mechanisms, Brain vasculitis, Disease model, business.industry, Mechanism (biology), Crry ig, Genetic predisposition, Targeted biological medication, Peptide fragment, Immunoregulation, Mental disease, Nonhuman, central nervous system, medicine.disease, Belimumab, Disease Models, Animal, Metabolism, 030104 developmental biology, Ribosomal p antibody, Nzbxnzw f1 mouse, Molecular targets, Hcdr1 peptide, Vitamin d, business, Cell phagocytosis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e072d3e09f13d53aef5a52b9e9fb889Test
https://doi.org/10.1177/0961203317694261Test

المؤلفون: Gofrit, S. G., Yonath, H., Lidar, M., Shoenfeld, Y., Kivity, S.

المصدر: Clinical Rheumatology ; volume 37, issue 5, page 1257-1263 ; ISSN 0770-3198 1434-9949

مصطلحات موضوعية: General Medicine, Rheumatology

الإتاحة: https://doi.org/10.1007/s10067-018-4032-3Test

المؤلفون: Vivante, A., Mann, N., Yonath, H., Weiss, A.C., Getwan, M., Kaminski, M.M., Bohnenpoll, T., Teyssier, C., Chen, J., Shril, S., van der Ven, A.T., Ityel, H., Schmidt, J.M., Widmeier, E., Bauer, S.B., Sanna-Cherchi, S., Gharavi, A.G., Lu, W., Magen, D., Shukrun, R., Lifton, R.P., Tasic, V., Stanescu, H.C., Cavaillès, V., Kleta, R., Anikster, Y., Dekel, B., Kispert, A., Lienkamp, S.S., Hildebrandt, F.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

العلاقة: A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling. Vivante, A. and Mann, N. and Yonath, H. and Weiss, A.C. and Getwan, M. and Kaminski, M.M. and Bohnenpoll, T. and Teyssier, C. and Chen, J. and Shril, S. and van der Ven, A.T. and Ityel, H. and Schmidt, J.M. and Widmeier, E. and Bauer, S.B. and Sanna-Cherchi, S. and Gharavi, A.G. and Lu, W. and Magen, D. and Shukrun, R. and Lifton, R.P. and Tasic, V. and Stanescu, H.C. and Cavaillès, V. and Kleta, R. and Anikster, Y. and Dekel, B. and Kispert, A. and Lienkamp, S.S. and Hildebrandt, F. Journal of the American Society of Nephrology 28 (8): 2364-2376. August 2017

الإتاحة: https://doi.org/10.1681/ASN.2016060694Test
http://edoc.mdc-berlin.de/18760Test/
https://edoc.mdc-berlin.de/18760Test/