يعرض 1 - 20 نتائج من 314 نتيجة بحث عن '"Horsthemke B."', وقت الاستعلام: 0.61s تنقيح النتائج
  1. 1
    Academic Journal
  2. 2
  3. 3
    Academic Journal
  4. 4
    Academic Journal

    المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073

  5. 5
    Academic Journal

    Relation: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9.; http://hdl.handle.net/11343/245207

  6. 6
    Academic Journal

    المؤلفون: Stunnenberg, H.G., Abrignani, S., Adams, D., de Almeida, M., Altucci, L., Amin, V., Amit, I., Antonarakis, S.E., Aparicio, S., Arima, T., Arrigoni, L., Arts, R., Asnafi, V., Badosa, M.E., Bae, J.-B., Bassler, K., Beck, S., Berkman, B., Bernstein, B.E., Bilenky, M., Bird, A., Bock, C., Boehm, B., Bourque, G., Breeze, C.E., Brors, B., Bujold, D., Burren, O., Bussemakers, M.J., Butterworth, A., Campo, E., Carrillo-de-Santa-Pau, E., Chadwick, L., Chan, K.M., Chen, W., Cheung, T.H., Chiapperino, L., Choi, N.H., Chung, H.-R., Clarke, L., Connors, J.M., Cronet, P., Danesh, J., Dermitzakis, M., Drewes, G., Durek, P., Dyke, S., Dylag, T., Eaves, C.J., Ebert, P., Eils, R., Eils, J., Ennis, C.A., Enver, T., Feingold, E.A., Felder, B., Ferguson-Smith, A., Fitzgibbon, J., Flicek, P., Foo, R.S.-Y., Fraser, P., Frontini, M., Furlong, E., Gakkhar, S., Gasparoni, N., Gasparoni, G., Geschwind, D.H., Glažar, P., Graf, T., Grosveld, F., Guan, X.-Y., Guigo, R., Gut, I.G., Hamann, A., Han, B.-G., Harris, R.A., Heath, S., Helin, K., Hengstler, J.G., Heravi-Moussavi, A., Herrup, K., Hill, S., Hilton, J.A., Hitz, B.C., Horsthemke, B., Hu, M., Hwang, J.-Y., Ip, N.Y., Ito, T., Javierre, B.-M., Jenko, S., Jenuwein, T., Joly, Y., Jones, S.J.M., Kanai, Y., Kang, H.G., Karsan, A., Kiemer, A.K., Kim, S.C., Kim, B.-J., Kim, H.-H., Kimura, H., Kinkley, S., Klironomos, F., Koh, I.-U., Kostadima, M., Kressler, C., Kreuzhuber, R., Kundaje, A., Küppers, R., Larabell, C., Lasko, P., Lathrop, M., Lee, D.H.S., Lee, S., Lehrach, H., Leitão, E., Lengauer, T., Lernmark, Å., Leslie, R.D., Leung, G.K.K., Leung, D., Loeffler, M., Ma, Y., Mai, A., Manke, T., Marcotte, E.R., Marra, M.A., Martens, J.H.A., Martin-Subero, J.I., Maschke, K., Merten, C., Milosavljevic, A., Minucci, S., Mitsuyama, T., Moore, R.A., Müller, F., Mungall, A.J., Netea, M.G., Nordström, K., Norstedt, I., Okae, H., Onuchic, V., Ouellette, F., Ouwehand, W., Pagani, M., Pancaldi, V., Pap, T., Pastinen, T., Patel, R., Paul, D.S., Pazin, M.J., Pelicci, P.G., Phillips, A.G., Polansky, J., Porse, B., Pospisilik, J.A., Prabhakar, S., Procaccini, D.C., Radbruch, A., Rajewsky, N., Rakyan, V., Reik, W., Ren, B., Richardson, D., Richter, A., Rico, D., Roberts, D.J., Rosenstiel, P., Rothstein, M., Salhab, A., Sasaki, H., Satterlee, J.S., Sauer, S., Schacht, C., Schmidt, F., Schmitz, G., Schreiber, S., Schröder, C., Schübeler, D., Schultze, J.L., Schulyer, R.P., Schulz, M., Seifert, M., Shirahige, K., Siebert, R., Sierocinski, T., Siminoff, L., Sinha, A., Soranzo, N., Spicuglia, S., Spivakov, M., Steidl, C., Strattan, J.S., Stratton, M., Südbeck, P., Sun, H., Suzuki, N., Suzuki, Y., Tanay, A., Torrents, D., Tyson, F.L., Ulas, T., Ullrich, S., Ushijima, T., Valencia, A., Vellenga, E., Vingron, M., Wallace, C., Wallner, S., Walter, J., Wang, H., Weber, S., Weiler, N., Weller, A., Weng, A., Wilder, S., Wiseman, S.M., Wu, A.R., Wu, Z., Xiong, J., Yamashita, Y., Yang, X., Yap, D.Y., Yip, K.Y., Yip, S., Yoo, J.-I., Zerbino, D., Zipprich, G., Hirst, M., 木村宏, Hiroshi Kimura

  7. 7
    Academic Journal

    المساهمون: Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., Nava, C., Drouot, N., Engel, C., Piard, J., Duban-Bedu, B., Villard, L., Stegmann, A. P. A., Vanhoutte, E. K., Verdonschot, J. A. J., Kaiser, F. J., Tran Mau-Them, F., Scala, M., Striano, P., Frints, S. G. M., Argilli, E., Sherr, E. H., Elder, F., Buratti, J., Keren, B., Mignot, C., Héron, D., Mandel, J. L., Gecz, J., Kalscheuer, V. M., Horsthemke, B., Piton, A., Depienne, C.

    وصف الملف: ELETTRONICO

    Relation: info:eu-repo/semantics/altIdentifier/pmid/36323681; info:eu-repo/semantics/altIdentifier/wos/WOS:000879356300008; volume:13; firstpage:6570; lastpage:6587; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11567/1119303; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141183419

  8. 8
    Academic Journal
  9. 9
    Academic Journal

    المصدر: Cell , 167 (5) pp. 1145-1149. (2016)

    وصف الملف: text

  10. 10
  11. 11
    Academic Journal
  12. 12
    Conference
  13. 13
    Academic Journal

    المساهمون: J. Beygo, V. Citro, A. Sparago, A. De crescenzo, F. Cerrato, M. Heitmann, K. Rademacher, A. Guala, T. Enklaar, C. Anichini, M. Cirillo silengo, N. Graf, D. Prawitt, M.V. Cubelli, B. Horsthemke, K. Buiting, A. Riccio

    Relation: info:eu-repo/semantics/altIdentifier/pmid/23118352; info:eu-repo/semantics/altIdentifier/wos/WOS:000313531500011; volume:22; issue:3; firstpage:544; lastpage:557; numberofpages:14; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2434/724716; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872373720

  14. 14
    Academic Journal

    مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

    وصف الملف: application/pdf

    Relation: http://edoc.mdc-berlin.de/12292/1/12292oa.pdf; An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity. Kuehnen, P. and Mischke, M. and Wiegand, S. and Sers, C. and Horsthemke, B. and Lau, S. and Keil, T. and Lee, Y.A. and Grueters, A. and Krude, H. PLoS Genetics 8 (3): e1002543. 15 March 2012

  15. 15
    Academic Journal
  16. 16
    Academic Journal

    المصدر: Briefings in Functional Genomics ; volume 9, issue 4, page 347-353 ; ISSN 2041-2649 2041-2657

  17. 17
    Academic Journal
  18. 18
    Academic Journal

    مصطلحات موضوعية: ddc:no

    Relation: Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P. and Kuechler, A. (2020). The adult phenotype of Schaaf-Yang syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 360 - 361. LONDON: SPRINGERNATURE. ISSN 1476-5438

  19. 19
    Academic Journal
  20. 20
    Academic Journal