Hasil Pencarian - Bodo B Beck

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  1. 1
    Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease

    Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease oleh Christina Taylan, Andrea Wenzel, Andrea Wenzel, Florian Erger, Florian Erger, Heike Göbel, Lutz T. Weber, Bodo B. Beck, Bodo B. Beck

    Diterbitkan 2020-03-01
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  2. 2
    Kidney stones in primary hyperoxaluria: new lessons learnt.

    Kidney stones in primary hyperoxaluria: new lessons learnt. oleh Dorrit E Jacob, Bernd Grohe, Michaela Geßner, Bodo B Beck, Bernd Hoppe

    Diterbitkan 2013-01-01
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  3. 3
    Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis

    Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis oleh Tilman Jobst-Schwan, Andrea Pannes, Karl Peter Schlingmann, Kai-Uwe Eckardt, Bodo B. Beck, Michael S. Wiesener

    Diterbitkan 2015-08-01
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  4. 4
    Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.

    Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in t... oleh Rebeca Martinez-Turrillas, Saray Rodriguez-Diaz, Paula Rodriguez-Marquez, Angel Martin-Mallo, Eduardo Salido, Bodo B. Beck, Felipe Prosper, Juan R. Rodriguez-Madoz

    Diterbitkan 2019-12-01
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  5. 5
    cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA

    cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA oleh Florian Erger, Deborah Nörling, Domenica Borchert, Esther Leenen, Sandra Habbig, Michael S. Wiesener, Malte P. Bartram, Andrea Wenzel, Christian Becker, Mohammad R. Toliat, Peter Nürnberg, Bodo B. Beck, Janine Altmüller

    Diterbitkan 2020-06-01
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  6. 6
    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer oleh Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller

    Diterbitkan 2017-05-01
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  7. 7
    A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

    A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. oleh Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B Beck

    Diterbitkan 2013-01-01
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  8. 8
    Clinical profile of a Polish cohort of children and young adults with cystinuria

    Clinical profile of a Polish cohort of children and young adults with cystinuria oleh Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Merit Kirolos, Adam Haliński, Aleksandra Krzemień, Aleksandra Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B. Beck, Przemysław Sikora, Marcin Zaniew

    Diterbitkan 2021-01-01
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  9. 9
    Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry

    Long-Term Transplantation Outcomes in Patients With Primary Hyperoxaluria Type 1 Included in the European Hyperoxaluria Consortium (OxalEurope) Registry oleh Elisabeth L. Metry, Sander F. Garrelfs, Hessel Peters-Sengers, Sally-Anne Hulton, Cecile Acquaviva, Justine Bacchetta, Bodo B. Beck, Laure Collard, Georges Deschênes, Casper Franssen, Markus J. Kemper, Graham W. Lipkin, Giorgia Mandrile, Nilufar Mohebbi, Shabbir H. Moochhala, Michiel J.S. Oosterveld, Larisa Prikhodina, Bernd Hoppe, Pierre Cochat, Jaap W. Groothoff

    Diterbitkan 2022-02-01
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