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Weingärtner, Oliver; Lütjohann, Dieter; Meyer, Sven; Fuhrmann, Arne; Cremers, Bodo; Seiler-Mußler, Sarah; Schött, Hans-F.; Kerksiek, Anja; Friedrichs, Silvia; Ulbricht, Ursula; Zawada, Adam; Laufs, Ulrich; Schulze, P. Christian; Scheller, Bruno; Fliser, Danilo; Böhm, Michael; Sijbrands, Eric; Heine, Gunnar H.Low serum lathosterol levels associate with fatal cardiovascular disease and excess all-cause mortality: a prospective cohort studyView onlineSchließen
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Published in: Clinical Research in Cardiology
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Keller, Johannes; Catala-Lehnen, Philip; Huebner, Antje K.; Jeschke, Anke; Heckt, Timo; Lueth, Anja; Krause, Matthias; Koehne, Till; Albers, Joachim; Schulze, Jochen; Schilling, Sarah; Haberland, Michael; Denninger, Hannah; Neven, Mona; Hermans-Borgmeyer, Irm; Streichert, Thomas; Breer, Stefan; Barvencik, Florian; Levkau, Bodo; Rathkolb, Birgit; Wolf, Eckhard; Calzada-Wack, Julia; Neff, Frauke; Gailus-Durner, Valerie; [...]Calcitonin controls bone formation by inhibiting the release of sphingosine 1-phosphate from osteoclastsView onlineSchließen
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Published in: Nature Communications
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Schlingmann, Karl P.; Jouret, François; Shen, Kuang; Nigam, Anukrati; Arjona, Francisco J.; Dafinger, Claudia; Houillier, Pascal; Jones, Deborah P.; Kleinerüschkamp, Felix; Oh, Jun; Godefroid, Nathalie; Eltan, Mehmet; Güran, Tülay; Burtey, Stéphane; Parotte, Marie-Christine; König, Jens; Braun, Alina; Bos, Caro; Ibars Serra, Maria; Rehmann, Holger; Zwartkruis, Fried J.T.; Renkema, Kirsten Y.; Klingel, Karin; Schulze-Bahr, Eric; [...]mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and CardiomyopathyView onlineSchließen
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Published in: Journal of the American Society of Nephrology
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Gathmann, Benjamin; Mahlaoui, Nizar; Gérard, Laurence; Oksenhendler, Eric; Warnatz, Klaus; Schulze, Ilka; Kindle, Gerhard; Kuijpers, Taco W.; van Beem, Rachel T.; Guzman, David; Workman, Sarita; Soler-Palacín, Pere; De Gracia, Javier; Witte, Torsten; Schmidt, Reinhold E.; Litzman, Jiri; Hlavackova, Eva; Thon, Vojtech; Borte, Michael; Borte, Stephan; Kumararatne, Dinakantha; Feighery, Conleth; Longhurst, Hilary; Helbert, Matthew; [...]Clinical picture and treatment of 2212 patients with common variable immunodeficiencyView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Engelhardt, Karin R.; McGhee, Sean; Winkler, Sabine; Sassi, Atfa; Woellner, Cristina; Lopez-Herrera, Gabriela; Chen, Andrew; Kim, Hong Sook; Lloret, Maria Garcia; Schulze, Ilka; Ehl, Stephan; Thiel, Jens; Pfeifer, Dietmar; Veelken, Hendrik; Niehues, Tim; Siepermann, Kathrin; Weinspach, Sebastian; Reisli, Ismail; Keles, Sevgi; Genel, Ferah; Kutuculer, Necil; Camcıoğlu, Yıldız; Somer, Ayper; Karakoc-Aydiner, Elif; [...]Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Salzer, Ulrich; Bacchelli, Chiara; Buckridge, Sylvie; Pan-Hammarström, Qiang; Jennings, Stephanie; Lougaris, Vassilis; Bergbreiter, Astrid; Hagena, Tina; Birmelin, Jennifer; Plebani, Alessandro; Webster, A. David B.; Peter, Hans-Hartmut; Suez, Daniel; Chapel, Helen; McLean-Tooke, Andrew; Spickett, Gavin P.; Anover-Sombke, Stephanie; Ochs, Hans D.; Urschel, Simon; Belohradsky, Bernd H.; Ugrinovic, Sanja; Kumararatne, Dinakantha S.; Lawrence, Tatiana C.; Holm, Are M.; [...]Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromesView onlineSchließen
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Published in: Blood
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Engelhardt, Karin R.; Gertz, Michael E.; Keles, Sevgi; Schäffer, Alejandro A.; Sigmund, Elena C.; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E.; Massaad, Michel J.; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kilic, Sara Sebnem; Etzioni, Amos; Freeman, Alexandra F.; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Özden; Tezcan, Ilhan; [...]The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiencyView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Thalhammer, Julian; Kindle, Gerhard; Nieters, Alexandra; Rusch, Stephan; Seppänen, Mikko R.J.; Fischer, Alain; Grimbacher, Bodo; Edgar, David; Buckland, Matthew; Mahlaoui, Nizar; Ehl, Stephan; Boztug, Kaan; Brunner, Juergen; Demel, Ulrike F.; Förster-Waldl, Elisabeth; Gasteiger, Lukas M.; Göschl, Lisa; Kojić, Marina; Schroll, Andrea; Seidel, Markus G.; Wintergerst, Uwe; Wisgrill, Lukas; Sharapova, Svetlana O.; Goffard, Jean-Christophe; [...]Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestationsView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; [...]Twist exome capture allows for lower average sequence coverage in clinical exome sequencingView onlineSchließen
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Published in: Human Genomics
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Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; [...]A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingView onlineSchließen
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Published in: Genetics in Medicine
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Dege, Carmen [Editor]; Ellermann, Christian [Editor]; Teller, David [Editor]; Arndt, Friedrich [Editor]; Zimmermann, Lisbeth [Editor]; Mayer, Maximilian [Editor]Ordnungen im Wandel : Globale und lokale Wirklichkeiten im Spiegel transdisziplinärer AnalysenView onlineClose
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Published in: Global Studies