Showing 1 - 5 results of 5 for search 'Thomas Meitinger', query time: 0.06s Refine Results
  1. 1
    Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

    Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and... by Korbinian Maria Riedhammer, Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Matias Wagner, Matias Wagner, Thomas Meitinger, Thomas Meitinger, Julia Hoefele

    Published 2017
    Connect to this object online.
    Book
    Save to List
    Saved in:
  2. 2
    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

    Published 2024
    Connect to this object online.
    Book
    Save to List
    Saved in:
  3. 3
    Point mutations in the PDX1 transactivation domain impair human β-cell development and function

    Point mutations in the PDX1 transactivation domain impair human β-cell development and function by Xianming Wang, Michael Sterr, Ansarullah, Ingo Burtscher, Anika Böttcher, Julia Beckenbauer, Johanna Siehler, Thomas Meitinger, Hans-Ulrich Häring, Harald Staiger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert

    Published 2019
    Connect to this object online.
    Book
    Save to List
    Saved in:
  4. 4
    Genome-wide analysis of PDX1 target genes in human pancreatic progenitors

    Genome-wide analysis of PDX1 target genes in human pancreatic progenitors by Xianming Wang, Michael Sterr, Ingo Burtscher, Shen Chen, Anja Hieronimus, Fausto Machicao, Harald Staiger, Hans-Ulrich Häring, Gabriele Lederer, Thomas Meitinger, Filippo M. Cernilogar, Gunnar Schotta, Martin Irmler, Johannes Beckers, Martin Hrabě de Angelis, Michael Ray, Christopher V.E. Wright, Mostafa Bakhti, Heiko Lickert

    Published 2018
    Connect to this object online.
    Book
    Save to List
    Saved in:
  5. 5
    High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

    High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases by Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

    Published 2022
    Connect to this object online.
    Book
    Save to List
    Saved in:

Search Tools: