Search Results - Tim M. Strom

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  1. 1
    Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

    Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein by Tim M. Strom

    Published 1998
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  2. 2
    An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia

    An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia by Anna Benet‐Pagès, Peter Orlik, Tim M. Strom, Bettina Lorenz‐Depiereux

    Published 2004
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  3. 3
    Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

    Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets by Bettina Lorenz‐Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom

    Published 2010
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  4. 4
    Comparison of Plasma Atrial Natriuretic Peptide Levels in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases1

    Comparison of Plasma Atrial Natriuretic Peptide Levels in Healthy Children from Birth to Adolescence and in Children with Cardiac Diseases1 by J. Weil, F. Bidlingmaier, C Döhlemann, Ursula Kuhnle, Tim M. Strom, R. Lang

    Published 1986
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  5. 5
    Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

    Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases by Hana Kolářová, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock

    Published 2022
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  6. 6
    Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery

    Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery by Sebastian Eck, Anna Benet‐Pagès, Krzysztof Flisikowski, Thomas Meitinger, Ruedi Fries, Tim M. Strom

    Published 2009
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  7. 7
    A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

    A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1 by Dirk Fischer, Maria Schabhüttl, Thomas Wieland, Reinhard Windhager, Tim M. Strom, Michaela Auer‐Grumbach

    Published 2014
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  8. 8
    Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia

    Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia by Tim M. Strom, Fiona Francis, Bettina Lorenz, Annett Böddrich, Hans Lehrach, Michael J. Econs, Thomas Meitinger

    Published 1997
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  9. 9
    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease by Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    Published 2014
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  10. 10
    A Transcriptional Silencing Domain in DAX-1 Whose Mutation Causes Adrenal Hypoplasia Congenita

    A Transcriptional Silencing Domain in DAX-1 Whose Mutation Causes Adrenal Hypoplasia Congenita by Enzo Lalli, Barbara Bardoni, Emmanuel Zazopoulos, Jean‐Marie Wurtz, Tim M. Strom, Dino Moras, Paolo Sassone‐Corsi

    Published 1997
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  11. 11
    Classic Selective Sweeps Revealed by Massive Sequencing in Cattle

    Classic Selective Sweeps Revealed by Massive Sequencing in Cattle by Saber Qanbari, Hubert Pausch, Sandra Jansen, Mehmet Somel, Tim M. Strom, Ruedi Fries, Rasmus Nielsen, Henner Simianer

    Published 2014
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  12. 12
    Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23

    Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23 by Kenneth E. White, Gwénaëlle Carn, Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Tim M. Strom, Michael J. Econs

    Published 2001
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  13. 13
    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

    Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb by Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B. Haack, Elisabeth Graf, Tim M. Strom, Thomas Meitinger, Wasim Ahmad

    Published 2017
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  14. 14
    The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

    The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted by Monika Grabowski, Alexander Zimprich, Bettina Lorenz‐Depiereux, Vera M. Kalscheuer, Friedrich Asmus, Thomas Gasser, Thomas Meitinger, Tim M. Strom

    Published 2003
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  15. 15
    CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters

    CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters by Martin Bergbauer, Markus Kalla, Anne Schmeinck, Christine Göbel, Ulrich Rothbauer, Sebastian Eck, Anna Benet‐Pagès, Tim M. Strom, Wolfgang Hammerschmidt

    Published 2010
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  16. 16
    Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

    Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases by Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock

    Published 2020
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  17. 17
    Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis

    Polypeptide GalNAc-transferase T3 and Familial Tumoral Calcinosis by Kentaro Kato, Charlotte Jeanneau, Mads A. Tarp, Anna Benet‐Pagès, Bettina Lorenz‐Depiereux, Eric Bennett, Ulla Mandel, Tim M. Strom, Henrik Clausen

    Published 2006
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  18. 18
    Time‐ and compartment‐resolved proteome profiling of the extracellular niche in lung injury and repair

    Time‐ and compartment‐resolved proteome profiling of the extracellular niche in lung injury and repair by Herbert B. Schiller, Isis E. Fernandez, Gerald Burgstaller, Christoph Schaab, Richard A. Scheltema, Thomas Schwarzmayr, Tim M. Strom, Oliver Eickelberg, Matthias Mann

    Published 2015
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  19. 19
    A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens

    A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens by Saber Qanbari, Tim M. Strom, Georg Haberer, Steffen Weigend, Almas Gheyas, Frances Turner, David W. Burt, Rudolf Preisinger, Daniel Gianola, Henner Simianer

    Published 2012
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  20. 20
    Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles

    Prediction of Adipose Browning Capacity by Systematic Integration of Transcriptional Profiles by Yiming Cheng, Jiang Li, Susanne Keipert, Shuyue Zhang, Andreas Hauser, Elisabeth Graf, Tim M. Strom, Matthias H. Tschöp, Martin Jastroch, Fabiana Perocchi

    Published 2018
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