المؤلفون: Krane, M, Dressen, M, Santamaria, G, My, I, Schneider, CM, Dorn, T, Laue, S, Mastantuono, E, Berutti, R, Rawat, H, Gilsbach, R, Schneider, P, Lahm, H, Schwarz, S, Doppler, SA, Paige, S, Puluca, N, Doll, S, Neb, I, Brade, T, Zhang, Z, Abou-Ajram, C, Northoff, B, Holdt, LM, Sudhop, S, Sahara, M, Goedel, A, Dendorfer, A, Tjong, FVY, Rijlaarsdam, ME, Cleuziou, J, Lang, N, Kupatt, C, Bezzina, C, Lange, R, Bowles, NE, Mann, M, Gelb, BD, Crotti, L, Hein, L, Meitinger, T, Wu, S, Sinnecker, D, Gruber, PJ, Laugwitz, KL, Moretti, A

المصدر: Circulation. 144(17):1409-1428

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:148020319Test

المؤلفون: Haack, TB, Ignatius, E, Calvo-Garrido, J, Iuso, A, Isohanni, P, Maffezzini, C, Lonnqvist, T, Suomalainen, A, Gorza, M, Kremer, LS, Graf, E, Hartig, M, Berutti, R, Paucar, M, Svenningsson, P, Stranneheim, H, Brandberg, G, Wedell, A, Kurian, MA, Hayflick, SA, Venco, P, Tiranti, V, Strom, TM, Dichgans, M, Horvath, R, Holinski-Feder, E, Freyer, C, Meitinger, T, Prokisch, H, Senderek, J, Wredenberg, A, Carroll, CJ, Klopstock, T

المصدر: American journal of human genetics. 99(3):735-743

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:134264355Test

المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://hdl.handle.net/2434/926220Test

المؤلفون: Dumont, M, Weber-Lassalle, N, Joly-Beauparlant, C, Ernst, C, Droit, A, Feng, B-J, Dubois, S, Collin-Deschesnes, A-C, Soucy, P, Vallée, M, Fournier, F, Lemaçon, A, Adank, MA, Allen, J, Altmüller, J, Arnold, N, Ausems, MGEM, Berutti, R, Bolla, MK, Bull, S, Carvalho, S, Cornelissen, S, Dufault, MR, Dunning, AM, Engel, C, Gehrig, A, Geurts-Giele, WRR, Gieger, C, Green, J, Hackmann, K, Helmy, M, Hentschel, J, Hogervorst, FBL, Hollestelle, A, Hooning, MJ, Horváth, J, Ikram, MA, Kaulfuß, S, Keeman, R, Kuang, D, Luccarini, C, Maier, W, Martens, JWM, Niederacher, D, Nürnberg, P, Ott, C-E, Peters, A, Pharoah, PDP, Ramirez, A, Ramser, J, Riedel-Heller, S, Schmidt, G, Shah, M, Scherer, M, Stäbler, A, Strom, TM, Sutter, C, Thiele, H, van Asperen, CJ, van der Kolk, L, van der Luijt, RB, Volk, AE, Wagner, M, Waisfisz, Q, Wang, Q, Wang-Gohrke, S, Weber, BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee, P, Tavtigian, S, Bader, GD, Meindl, A, Goldgar, DE, Andrulis, IL, Schmutzler, RK, Easton, DF, Schmidt, MK, Hahnen, E, Simard, J

العلاقة: pii: cancers14143363; Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B. -J., Dubois, S., Collin-Deschesnes, A. -C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M. A., Allen, J., Altmüller, J., Arnold, N., Ausems, M. G. E. M., Berutti, R., Bolla, M. K. ,. Simard, J. (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel), 14 (14), pp.3363-. https://doi.org/10.3390/cancers14143363Test.; http://hdl.handle.net/11343/317160Test

الإتاحة: https://doi.org/10.3390/cancers14143363Test
http://hdl.handle.net/11343/317160Test

المؤلفون: Skorvanek, M, Rektorova, I, Mandemakers, W, Wagner, M, Steinfeld, R, Orec, L, Han, V, Pavelekova, P, Lackova, A, Kulcsarova, K, Ostrozovicova, M, Gdovinova, Z, Plecko, B, Brunet, T, Berutti, R, Kuipers, DJS, Boumeester, V, Havrankova, P, Tijssen, MAJ, Kaiyrzhanov, R, Rizig, M, Houlden, H, Winkelmann, J, Bonifati, V, Zech, M, Jech, R

المصدر: Parkinsonism & Related Disorders , 94 pp. 54-61. (2022)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177995Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10177995Test/

المؤلفون: Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B.J., Dubois, S., Collin-Deschesnes, A.C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M.A., Allen, J., Altmüller, J., Arnold, N., Ausems, M.G.E.M., Berutti, R., Bolla, M.K., Bull, S., Carvalho, S., Cornelissen, S., Dufault, M.R., Dunning, A.M., Engel, C., Gehrig, A., Geurts-Giele, W.R.R., Gieger, C., Green, J., Hackmann, K., Helmy, M., Hentschel, J., Hogervorst, F.B.L., Hollestelle, A., Hooning, M.J., Horváth, J., Ikram, M.A., Kaulfuß, S., Keeman, R., Kuang, D., Luccarini, C., Maier, W., Martens, J.W.M., Niederacher, D., Nürnberg, P., Ott, C.E., Peters, A., Pharoah, P.D.P., Ramirez, A., Ramser, J., Riedel-Heller, S., Schmidt, G., Shah, M., Scherer, M., Stäbler, A., Strom, T.M., Sutter, C., Thiele, H., van Asperen, C.J., van der Kolk, L., van der Luijt, R.B., Volk, A.E., Wagner, M., Waisfisz, Q., Wang, Q., Wang-Gohrke, S., Weber, B.H.F., Devilee, P., Tavtigian, S., Bader, G.D., Meindl, A., Goldgar, D.E., Andrulis, I.L., Schmutzler, R.K., Easton, D.F., Schmidt, M.K., Hahnen, E., Simard, J.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/21964/1/21964oa.pdfTest; http://edoc.mdc-berlin.de/21964/2/21964suppl.zipTest; Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry. Dumont, M. and Weber-Lassalle, N. and Joly-Beauparlant, C. and Ernst, C. and Droit, A. and Feng, B.J. and Dubois, S. and Collin-Deschesnes, A.C. and Soucy, P. and Vallée, M. and Fournier, F. and Lemaçon, A. and Adank, M.A. and Allen, J. and Altmüller, J. and Arnold, N. and Ausems, M.G.E.M. and Berutti, R. and Bolla, M.K. and Bull, S. and Carvalho, S. and Cornelissen, S. and Dufault, M.R. and Dunning, A.M. and Engel, C. and Gehrig, A. and Geurts-Giele, W.R.R. and Gieger, C. and Green, J. and Hackmann, K. and Helmy, M. and Hentschel, J. and Hogervorst, F.B.L. and Hollestelle, A. and Hooning, M.J. and Horváth, J. and Ikram, M.A. and Kaulfuß, S. and Keeman, R. and Kuang, D. and Luccarini, C. and Maier, W. and Martens, J.W.M. and Niederacher, D. and Nürnberg, P. and Ott, C.E. and Peters, A. and Pharoah, P.D.P. and Ramirez, A. and Ramser, J. and Riedel-Heller, S. and Schmidt, G. and Shah, M. and Scherer, M. and Stäbler, A. and Strom, T.M. and Sutter, C. and Thiele, H. and van Asperen, C.J. and van der Kolk, L. and van der Luijt, R.B. and Volk, A.E. and Wagner, M. and Waisfisz, Q. and Wang, Q. and Wang-Gohrke, S. and Weber, B.H.F. and Devilee, P. and Tavtigian, S. and Bader, G.D. and Meindl, A. and Goldgar, D.E. and Andrulis, I.L. and Schmutzler, R.K. and Easton, D.F. and Schmidt, M.K. and Hahnen, E. and Simard, J. Cancers 14 (14): 3363. 11 July 2022

الإتاحة: https://doi.org/10.3390/cancers14143363Test
http://edoc.mdc-berlin.de/21964Test/
https://edoc.mdc-berlin.de/21964Test/
http://edoc.mdc-berlin.de/21964/1/21964oa.pdfTest
http://edoc.mdc-berlin.de/21964/2/21964suppl.zipTest

المؤلفون: Kratz, C.P., Smirnov, D., Autry, R., Jäger, N., Waszak, S.M., Großhennig, A., Berutti, R., Wendorff, M., Hainaut, P., Pfister, S.M., Prokisch, H., Ripperger, T., Malkin, D.

المصدر: J. Natl. Cancer Inst. 114, 1523-1532 (2022)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35980168; info:eu-repo/semantics/altIdentifier/wos/WOS:000852759500001; info:eu-repo/semantics/altIdentifier/isbn/0027-8874; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66009Test; urn:isbn:0027-8874; urn:issn:0027-8874; urn:issn:1460-2105

الإتاحة: https://doi.org/10.1093/jnci/djac151Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66009Test

المؤلفون: Smirnov, D., Schlieben, L.D., Peymani, F., Berutti, R., Prokisch, H.

المصدر: Hum. Mutat. 43, 1056-1070 (2022)

مصطلحات موضوعية: Rna Sequencing, Guidelines, Rare Disorders, Variant Interpretation

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35645004; info:eu-repo/semantics/altIdentifier/wos/WOS:000818107000001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65473Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.24416Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65473Test

المؤلفون: Rospleszcz, S., Starnecker, F., Linkohr, B., von Scheidt, M., Gieger, C., Schunkert, H., Peters, A., DigiMed Bayern Consortium (Adam, J.), DigiMed Bayern Consortium (Berutti, R.), DigiMed Bayern Consortium (Brandmaier, S.)

المصدر: Diagnostics 12:965 (2022)

مصطلحات موضوعية: Calibration, Cardiovascular Disease, Cohort Study, Risk Factors, Risk Prediction

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35454012; info:eu-repo/semantics/altIdentifier/wos/WOS:000785427600001; info:eu-repo/semantics/altIdentifier/isbn/2075-4418; info:eu-repo/semantic; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64878Test; urn:isbn:2075-4418; urn:issn:2075-4418

الإتاحة: https://doi.org/10.3390/diagnostics12040965Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64878Test

المؤلفون: Meier, A.B., Raj Murthi, S., Rawat, H., Toepfer, C.N., Santamaria, G., Schmid, M., Mastantuono, E., Schwarzmayr, T., Berutti, R., Cleuziou, J., Ewert, P., Görlach, A., Klingel, K., Laugwitz, K.L., Seidman, C.E., Seidman, J.G., Moretti, A., Wolf, C.M.

المصدر: iScience 25:103596 (2022)

مصطلحات موضوعية: Cell Biology, Stem Cells Research, Transcriptomics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34988410; info:eu-repo/semantics/altIdentifier/wos/WOS:000791013000007; info:eu-repo/semantics/altIdentifier/isbn/2589-0042; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63861Test; urn:isbn:2589-0042; urn:issn:2589-0042

الإتاحة: https://doi.org/10.1016/j.isci.2021.103596Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63861Test