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Material Type: Artigo
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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisMüller-Barth, Ursula ; Olivares, José L ; Glorieux, Francis ; Wagenstaller, Janine ; Benet-Pagès, Anna ; Loris, César ; Jüppner, Harald ; Strom, Tim M ; Bastepe, Murat ; Kaiser, Stephanie M ; Shlossberg, Alan H ; Lorenz-Depiereux, Bettina ; Amyere, Mustapha ; Badenhoop, Klaus ; Rittmaster, Roger S ; Ramos, Feliciano J ; Vikkula, MiikkaNature genetics, 2006-11, Vol.38 (11), p.1248-1250 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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The phylogenetic relationships of US maize germplasmLorenz, Aaron ; Hoegemeyer, ThomasNature genetics, 2013-08, Vol.45 (8), p.844-845 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease riskIzquierdo, A.G. ; Chen, J. ; Batini, C. ; Pavuluri, C. ; Hobbs, B.D. ; Moll, M. ; Tal-Singer, R. ; Bakke, P. ; Fawcett, K.A. ; Coley, K. ; Pozarickij, A. ; Li, L.M. ; Wijnant, S.R.A. ; Lahousse, L. ; Uitterlinden, A.G. ; Oelsner, E.C. ; Rich, S.S. ; Barr, R.G. ; Kerr, S.M. ; Brown, M.R. ; Wielscher, M. ; Jeong, A. ; Gharib, S.A. ; Flexeder, C. ; Karrasch, S. ; Meyers, D.A. ; Bleecker, E.R. ; Gabriel, S.B. ; Smith, A.V. ; Luan, J.A. ; Smith, B.H. ; Campbell, A. ; Sofer, T. ; Lee, J. ; Daviglus, M.L. ; Albagha, O.M.E. ; Al-Muftah, W. ; Mbarek, H. ; Yasin, H. ; Abdellatif, R. ; Alkuwari, F. ; Alvi, M. ; Al-Sarraj, Y. ; Saad, C. ; Qafoud, F. ; Tomei, S. ; Liu, W. ; Syed, N. ; Almabrazi, H. ; Vempalli, F.R. ; Temanni, R. ; Abu Saqri, T. ; Khatib, M. ; Abu Zaid, T. ; Khouly, A. el ; Pathare, T. ; Poolat, S. ; Puthen, J. ; Tatari, Z. ; Suhre, K. ; Granell, R. ; Hiemstra, P.S. ; Beilby, J. ; Patasova, K. ; Hysi, P. ; Lee, M. ; May-Wilson, S. ; Pirastu, N. ; Kentistou, K.A. ; Free, R.C. ; Wang, X.Y. ; Morrison, J.L. ; Wang, C.A. ; Foong, R.E. ; Harris, S.E. ; Taylor, A. ; Mahajan, A. ; Lind, L. ; Palviainen, T. ; Lehtimäki, T. ; Kaprio, J. ; Rantanen, T. ; Pietiläinen, K.H. ; Pennell, C.E. ; Brightling, C. ; Vasankari, T. ; Laitinen, T. ; Hayward, C. ; Weiss, S. ; Homuth, G. ; Schmidt, C.O. ; Probst-Hensch, N. ; Morrison, A.C. ; Polasek, O. ; Lee, J.H. ; Silverman, E.K. ; Walters, R.G. ; Morris, A.P. ; London, S.J. ; Hall, I.P.Nature Genetics, 2023-03, Vol.55 (3), p.410-422NATURE PORTFOLIOTexto completo disponível |
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Renal and intestinal absorptive defects in mice lacking the NHE3 Na super(+)/H super(+) exchangerSchultheis, P J ; Clarke, L L ; Meneton, P ; Miller, M L ; Soleimani, M ; Gawenis, L R ; Riddle, T M ; Duffy, J J ; Doetschman, T ; Wang, T ; Giebisch, G ; Aronson, P S ; Lorenz, J N ; Shull, GENature genetics, 1998-07, Vol.19 (3), p.282-284 [Periódico revisado por pares]Texto completo disponível |
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ErratumNature genetics, 2017-08, Vol.49 (8), p.1286 [Periódico revisado por pares]New York: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Renal and intestinal absorptive defects in mice lacking the NHE3 Na + /H + exchangerShull, Gary E ; Schultheis, Patrick J ; Clarke, Lane L ; Meneton, Pierre ; Miller, Marian L ; Soleimani, Manoocher ; Gawenis, Lara R ; Riddle, Tara M ; Duffy, John J ; Doetschman, Thomas ; Wang, Tong ; Giebisch, Gerhard ; Aronson, Peter S ; Lorenz, John NNature genetics, 1998-07, Vol.19 (3), p.282-285 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencingRICHTER, Julia ; SCHLESNER, Matthias ; LENZE, Dido ; SZCZEPANOWSKI, Monika ; PAULSEN, Maren ; LIPINSKI, Simone ; RUSSELL, Robert B ; ADAM-KLAGES, Sabine ; APIC, Gordana ; CLAVIEZ, Alexander ; HASENCLEVER, Dirk ; HOVESTADT, Volker ; HOFFMANN, Steve ; HORNIG, Nadine ; KORBEL, Jan O ; KUBE, Dieter ; LANGENBERGER, David ; LAWERENZ, Chris ; LISFELD, Jasmin ; MEYER, Katharina ; PICELLI, Simone ; PISCHIMAROV, Jordan ; RADLWIMMER, Bernhard ; KREUZ, Markus ; RAUSCH, Tobias ; ROHDE, Marius ; SCHILHABEL, Markus ; SCHOLTYSIK, René ; SPANG, Rainer ; TRAUTMANN, Heiko ; ZENZ, Thorsten ; BORKHARDT, Arndt ; DREXLER, Hans G ; MÖLLER, Peter ; LEICH, Ellen ; MACLEOD, Roderick A. F ; POTT, Christiane ; SCHREIBER, Stefan ; TRÜMPER, Lorenz ; LOEFFLER, Markus ; STADLER, Peter F ; LICHTER, Peter ; EILS, Roland ; KÜPPERS, Ralf ; HUMMEL, Michael ; BURKHARDT, Birgit ; KLAPPER, Wolfram ; ROSENSTIEL, Philip ; ROSENWALD, Andreas ; BRORS, Benedikt ; SIEBERT, Reiner ; ROSOLOWSKI, Maciej ; AMMERPOHL, Ole ; WAGENER, Rabea ; BERNHART, Stephan HNature genetics, 2012-12, Vol.44 (12), p.1316-1320 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A role for Smad6 in development and homeostasis of the cardiovascular systemGalvin, Katherine M ; Donovan, Michael J ; Lynch, Catherine A ; Meyer, Ronald I ; Paul, Richard J ; Lorenz, John N ; Fairchild-Huntress, Victoria ; Dixon, Kristen L ; Dunmore, Judy H ; Gimbrone, Michael A ; Falb, Dean ; Huszar, DennisNature genetics, 2000-02, Vol.24 (2), p.171-174 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Chromothripsis followed by circular recombination drives oncogene amplification in human cancerRosswog, Carolina ; Bartenhagen, Christoph ; Welte, Anne ; Kahlert, Yvonne ; Hemstedt, Nadine ; Lorenz, Witali ; Cartolano, Maria ; Ackermann, Sandra ; Perner, Sven ; Vogel, Wenzel ; Altmüller, Janine ; Nürnberg, Peter ; Hertwig, Falk ; Göhring, Gudrun ; Lilienweiss, Esther ; Stütz, Adrian M ; Korbel, Jan O ; Thomas, Roman K ; Peifer, Martin ; Fischer, MatthiasNature genetics, 2021-12, Vol.53 (12), p.1673-1685 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Integrating population genetics, stem cell biology and cellular genomics to study complex human diseasesFarbehi, Nona ; Neavin, Drew R ; Cuomo, Anna S E ; Studer, Lorenz ; MacArthur, Daniel G ; Powell, Joseph ENature genetics, 2024-05, Vol.56 (5), p.758-766 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |