检索结果 - 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 由 Tim M. Strom

    出版 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 由 Anna Benet‐Pagès, Peter Orlik, Tim M. Strom, Bettina Lorenz‐Depiereux

    出版 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 由 Bettina Lorenz‐Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom

    出版 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 由 J. Weil, F. Bidlingmaier, C Döhlemann, Ursula Kuhnle, Tim M. Strom, R. Lang

    出版 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 由 Hana Kolářová, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock

    出版 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 由 Sebastian Eck, Anna Benet‐Pagès, Krzysztof Flisikowski, Thomas Meitinger, Ruedi Fries, Tim M. Strom

    出版 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 由 Dirk Fischer, Maria Schabhüttl, Thomas Wieland, Reinhard Windhager, Tim M. Strom, Michaela Auer‐Grumbach

    出版 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 由 Tim M. Strom, Fiona Francis, Bettina Lorenz, Annett Böddrich, Hans Lehrach, Michael J. Econs, Thomas Meitinger

    出版 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 由 Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    出版 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 由 Enzo Lalli, Barbara Bardoni, Emmanuel Zazopoulos, Jean‐Marie Wurtz, Tim M. Strom, Dino Moras, Paolo Sassone‐Corsi

    出版 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 由 Saber Qanbari, Hubert Pausch, Sandra Jansen, Mehmet Somel, Tim M. Strom, Ruedi Fries, Rasmus Nielsen, Henner Simianer

    出版 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 由 Kenneth E. White, Gwénaëlle Carn, Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Tim M. Strom, Michael J. Econs

    出版 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 由 Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B. Haack, Elisabeth Graf, Tim M. Strom, Thomas Meitinger, Wasim Ahmad

    出版 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 由 Monika Grabowski, Alexander Zimprich, Bettina Lorenz‐Depiereux, Vera M. Kalscheuer, Friedrich Asmus, Thomas Gasser, Thomas Meitinger, Tim M. Strom

    出版 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 由 Martin Bergbauer, Markus Kalla, Anne Schmeinck, Christine Göbel, Ulrich Rothbauer, Sebastian Eck, Anna Benet‐Pagès, Tim M. Strom, Wolfgang Hammerschmidt

    出版 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 由 Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock

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

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

    出版 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 由 Herbert B. Schiller, Isis E. Fernandez, Gerald Burgstaller, Christoph Schaab, Richard A. Scheltema, Thomas Schwarzmayr, Tim M. Strom, Oliver Eickelberg, Matthias Mann

    出版 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 由 Saber Qanbari, Tim M. Strom, Georg Haberer, Steffen Weigend, Almas Gheyas, Frances Turner, David W. Burt, Rudolf Preisinger, Daniel Gianola, Henner Simianer

    出版 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 由 Yiming Cheng, Jiang Li, Susanne Keipert, Shuyue Zhang, Andreas Hauser, Elisabeth Graf, Tim M. Strom, Matthias H. Tschöp, Martin Jastroch, Fabiana Perocchi

    出版 2018
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