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Diener, S. et al.: Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm. Genome 27, 111-121 (2016)
Fuchs, H. et al.: The first Scube3 mutant mouse line with pleiotropic phenotypic alterations. Genes Genomes Genetics G3 6, 4035-4046 (2016)
Diener, S. ; Schorpp, K.K. ; Strom, T.M. ; Hadian, K. & Lorenz-Depiereux, B.: Development of a cell-based assay to identify small molecule inhibitors of FGF23 signaling. Assay Drug Dev. Technol. 13, 476-487 (2015)
Diener, S.: Molecular genetics of phosphate homeostasis. München, Technische Universität, Fakultät Wissenschaftszentrum Weihenstephan, Diss., 2015, 143 S.
Lichtenauer, U.D.* et al.: Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomas. J. Clin. Endocrinol. Metab. 100, E776-E782 (2015)
Beuschlein, F.* et al.: Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N. Engl. J. Med. 370, 1019-1028 (2014)
Faucz, F.R.* et al.: Constitutive activation of PRKACA in adrenal Cushing's syndrome. Cancer Res. 74:LB-182 (2014)
Beuschlein, F.* et al.: Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat. Genet. 45, 440-444 (2013)
Sabrautzki, S. et al.: An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. Am. J. Pathol. 183, 352-368 (2013)