المؤلفون: Barrea, C., Onderzoeker, Vaessen, Stefan, Lid lectoraat, Bulk, S., Onderzoeker, Harvengt, J., Onderzoeker, Misson, J.P., Onderzoeker

المساهمون: Kenniscentrum Gezond en Duurzaam Leven, Hogeschool Utrecht, Innovative Testing in Life Sciences and Chemistry, Hogeschool Utrecht@@@Kenniscentrum Gezond en Duurzaam Leven

المصدر: Neuropediatrics. 49(3):180-184

مصطلحات موضوعية: Medicine

الوصول الحر: https://surfsharekit.nl/public/2ace5c0a-84db-474b-a46b-aae4f060f2feTest

الإتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_hu:oai:surfsharekit.nl:2ace5c0a-84db-474b-a46b-aae4f060f2feTest

المؤلفون: Greene, D, Genomics England Research Consortium, Pirri, D, Frudd, K, Sackey, E, Al-Owain, M, Giese, APJ, Ramzan, K, Riaz, S, Yamanaka, I, Boeckx, N, Thys, C, Gelb, BD, Brennan, P, Hartill, V, Harvengt, J, Kosho, T, Mansour, S, Masuno, M, Ohata, T, Stewart, H, Taibah, K, Turner, CLS, Imtiaz, F, Riazuddin, S, Morisaki, T, Ostergaard, P, Loeys, BL, Morisaki, H, Ahmed, ZM, Birdsey, GM, Freson, K, Mumford, A, Turro, E

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115131/1/Greene_accepted%20version.pdfTest; Greene, D; Genomics England Research Consortium; Pirri, D; Frudd, K; Sackey, E; Al-Owain, M; Giese, APJ; Ramzan, K; Riaz, S; Yamanaka, I; et al. Greene, D; Genomics England Research Consortium; Pirri, D; Frudd, K; Sackey, E; Al-Owain, M; Giese, APJ; Ramzan, K; Riaz, S; Yamanaka, I; Boeckx, N; Thys, C; Gelb, BD; Brennan, P; Hartill, V; Harvengt, J; Kosho, T; Mansour, S; Masuno, M; Ohata, T; Stewart, H; Taibah, K; Turner, CLS; Imtiaz, F; Riazuddin, S; Morisaki, T; Ostergaard, P; Loeys, BL; Morisaki, H; Ahmed, ZM; Birdsey, GM; Freson, K; Mumford, A; Turro, E (2023) Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nat Med, 29 (3). pp. 679-688. ISSN 1546-170X https://doi.org/10.1038/s41591-023-02211-zTest SGUL Authors: Ostergaard, Pia

الإتاحة: https://doi.org/10.1038/s41591-023-02211-zTest
https://openaccess.sgul.ac.uk/id/eprint/115131Test/
https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115131/1/Greene_accepted%20version.pdfTest

المؤلفون: Harvengt, J., Lumaka, A., Fasquelle, C., Caberg, J. H., Mastouri, M., Janssen, A., Palmeira, L., Bours, V.

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1137767Test

المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.

المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174

الإتاحة: https://doi.org/10.1002/humu.23975Test
http://hdl.handle.net/11568/1071295Test

المؤلفون: Rice, G, Park, S, Gavazzi, F, Adang, LA, Ayuk, LA, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, de Villemeur, TB, Bley, AE, Blumkin, L, Boespflug-Tanguy, O, Briggs, TA, Brimble, E, Dale, RC, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, af Hagelsrum, GD, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, DA, Lev, D, Levrat, V, Livingston, JH, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Perez-Duenas, B, Popp, B, Rodero, MP, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Vila, MT, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, CJ, Zerem, A, Zweier, C, Zuberi, SM, Orcesi, S, Vanderver, AL, Hur, S, Crow, YJ

المصدر: Human Mutation (2020) (In press).

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10090388Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10090388Test/

المؤلفون: Valdes-Socin, H., Libioulle, C., Debray, G., Harvengt, J., Pintiaux, A., Jonas, C., Vincent, G., Corman, V., Dideberg, V., T'Sjoen, G., De Leerner, A., Beckers, D., Destree, A., Roland, D., Lederer, D., Boscolo, M., Burlacu, C., Vroonen, L., Bours, V., Maiter, D., Beckers, A.

المصدر: Annales d'Endocrinologie ; volume 79, issue 4, page 248 ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016Test/j.ando.2018.06.149
https://api.elsevier.com/content/article/PII:S0003426618302439?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426618302439?httpAccept=text/plainTest

المؤلفون: Valdes-Socin, H., Debray, FG., Harvengt, J., Libioulle, C., Dideberg, V., Bours, V., Beckers, A.

المصدر: Annales d'Endocrinologie ; volume 79, issue 4, page 249 ; ISSN 0003-4266

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016Test/j.ando.2018.06.152
https://api.elsevier.com/content/article/PII:S0003426618302464?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0003426618302464?httpAccept=text/plainTest

المؤلفون: Barrea, C., Vaessen, Stefan, Bulk, S., Harvengt, J., Misson, J.P.

المصدر: Neuropediatrics, 49(3), 180-184

مصطلحات موضوعية: Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::e4c6ac6a989d431a2ab6813ef2b6bb6bTest
https://surfsharekit.nl/public/2ace5c0a-84db-474b-a46b-aae4f060f2feTest

المؤلفون: Valdes-Socin, H., Debray, FG., Harvengt, J., Libioulle, C., Dideberg, V., Bours, V., Beckers, A.

المصدر: Annales d'Endocrinologie; September 2018, Vol. 79 Issue: 4 p249-249, 1p