未登录 Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction Balle, Camilla Mains; Lildballe, Dorte L.; Bedei, Ivonne; Luschka, Ruth; Skakkebaek, Anne; Chang, Simon; Agirman, Zeynep; Keller, Jan; Weber, Axel; Schaefer, Ramon E.; Becker-Follmann, Johannes; Gravholt, Claus H. 分享 收藏
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R. 分享 收藏
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood Latorre-Pellicer, Ana; Gil-Salvador, Marta; Parenti, Ilaria; Lucia-Campos, Cristina; Trujillano, Laura; Marcos-Alcalde, Inigo; Arnedo, Maria; Ascaso, Angela; Ayerza-Casas, Ariadna; Antonanzas-Perez, Rebeca; Gervasini, Cristina; Piccione, Maria; Mariani, Milena; Weber, Axel; Kanber, Deniz; Kuechler, Alma; Munteanu, Martin; Khuller, Katharina; Bueno-Lozano, Gloria; Puisac, Beatriz; Gomez-Puertas, Paulino; Selicorni, Angelo; Kaiser, Frank J.; Ramos, Feliciano J.; Pie, Juan 分享 收藏
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism Schaenzer, Anne; Achleitner, Melanie T.; Truembach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, Rene G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik-Schoeneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sanchez, Jacobo Perez; Ellard, Sian; Homfray, Tessa; Stals, Karen L.; Wurst, Wolfgang; Neubauer, Bernd A.; Acker, Till; Bohlander, Stefan K.; Asensio, Cedric; Besmond, Claude; Alkuraya, Fowzan S.; AlSayed, Moenaldeen D.; Hahn, Andreas; Weber, Axel 分享 收藏
Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1 Weber, Axel; Schwarz, Sigrid C.; Tost, Jorg; Truembach, Dietrich; Winter, Pia; Busato, Florence; Tacik, Pawel; Windhorst, Anita C.; Fagny, Maud; Arzberger, Thomas; McLean, Catriona; van Swieten, John C.; Schwarz, Johannes; Weisenhorn, Daniela Vogt; Wurst, Wolfgang; Adhikary, Till; Dickson, Dennis W.; Hoelinger, Gunter U.; Mueller, Ulrich 分享 收藏
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Cyclin-Dependent Kinase 6 Is a Chromatin-Bound Cofactor for NF-κB-Dependent Gene Expression Handschick, Katja; Beuerlein, Knut; Jurida, Liane; Bartkuhn, Marek; Mueller, Helmut; Soelch, Johanna; Weber, Axel; Dittrich-Breiholz, Oliver; Schneider, Heike; Scharfe, Maren; Jarek, Michael; Stellzig, Julia; Schmitz, M. Lienhard; Kracht, Michael 分享 收藏
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Diet intervention reduces uptake of αvβ3 integrin-targeted PET tracer 18F-galacto-RGD in mouse atherosclerotic plaques Saraste, Antti; Laitinen, Iina; Weidl, Eliane; Wildgruber, Moritz; Weber, Axel W.; Nekolla, Stephan G.; Hoelzlwimmer, Gabriele; Esposito, Irene; Walch, Axel; Leppanen, Pia; Lisinen, Irina; Luppa, Peter B.; Yla-Herttuala, Seppo; Wester, Hans-Juergen; Knuuti, Juhani; Schwaiger, Markus 分享 收藏
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Atlas-based whole-body segmentation of mice from low-contrast Micro-CT data 基于Atlas的低对比度显微CT数据小鼠全身分割 Baiker, Martin; Milles, Julien; Dijkstra, Jouke; Henning, Tobias D.; Weber, Axel W.; Que, Ivo; Kaijzel, Eric L.; Lowik, Clemens W. G. M.; Reiber, Johan H. C.; Lelieveldt, Boudewijn P. F. 分享 收藏
[11C]Choline as pharmacodynamic marker for therapy response assessment in a prostate cancer xenograft model Krause, Bernd J.; Souvatzoglou, Michael; Herrmann, Ken; Weber, Axel W.; Schuster, Tibor; Buck, Andreas K.; Nawroth, Roman; Weirich, Gregor; Treiber, Uwe; Wester, Hans-Juergen; Ziegler, Sibylle I.; Senekowitsch-Schmidtke, Reingard; Schwaiger, Markus 分享 收藏
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Zbtb4 represses transcription of P21CIP1 and controls the cellular response to p53 activation Weber, Axel; Marquardt, Judith; Elzi, David; Forster, Nicole; Starke, Sven; Glaum, Andre; Yamada, Daisuke; Defossez, Pierre-Antoine; Delrow, Jeffrey; Eisenman, Robert N.; Christiansen, Holger; Eilers, Martin 分享 收藏
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