Found: 5

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  • Genome sequencing in families with congenital limb malformations.

    Published in:
    Human Genetics, 2021, v. 140, n. 8, p. 1229, doi. 10.1007/s00439-021-02295-y
    By:
    • Elsner, Jonas;
    • Mensah, Martin A.;
    • Holtgrewe, Manuel;
    • Hertzberg, Jakob;
    • Bigoni, Stefania;
    • Busche, Andreas;
    • Coutelier, Marie;
    • de Silva, Deepthi C.;
    • Elçioglu, Nursel;
    • Filges, Isabel;
    • Gerkes, Erica;
    • Girisha, Katta M.;
    • Graul-Neumann, Luitgard;
    • Jamsheer, Aleksander;
    • Krawitz, Peter;
    • Kurth, Ingo;
    • Markus, Susanne;
    • Megarbane, Andre;
    • Reis, André;
    • Reuter, Miriam S.
    Publication type:
    Article

  • Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
    By:
    • Wei Chen;
    • Ullmann, Reinhard;
    • Langnick, Claudia;
    • Menzel, Corinna;
    • Wotschofsky, Zofia;
    • Hu, Hao;
    • Döring, Andreas;
    • Yuhui Hu;
    • Hui Kang;
    • Tzschach, Andreas;
    • Hoeltzenbein, Maria;
    • Neitzel, Heidemarie;
    • Markus, Susanne;
    • Wiedersberg, Eberhard;
    • Kistner, Gerd;
    • van Ravenswaaij-Arts, Conny M. A.;
    • Kleefstra, Tjitske;
    • Kalscheuer, Vera M;
    • Ropers, Hans-Hilger
    Publication type:
    Article

  • Correction: Diagnostic value of partial exome sequencing in developmental disorders.

    Published in:
    2020
    By:
    • Gieldon, Laura;
    • Mackenroth, Luisa;
    • Kahlert, Anne-Karin;
    • Lemke, Johannes R.;
    • Porrmann, Joseph;
    • Schallner, Jens;
    • von der Hagen, Maja;
    • Markus, Susanne;
    • Weidensee, Sabine;
    • Novotna, Barbara;
    • Soerensen, Charlotte;
    • Klink, Barbara;
    • Wagner, Johannes;
    • Tzschach, Andreas;
    • Jahn, Arne;
    • Kuhlee, Franziska;
    • Hackmann, Karl;
    • Schrock, Evelin;
    • Di Donato, Nataliya;
    • Rump, Andreas
    Publication type:
    Correction Notice

  • Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

    Published in:
    Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 473, doi. 10.2340/00015555-2299
    By:
    • HOTZ, Alrun;
    • OJI, Vinzenz;
    • BOURRAT, Emmanuelle;
    • JONCA, Nathalie;
    • MAZEREEUW-HAUTIER, Juliette;
    • BETZ, Regina C.;
    • BLUME-PEYTAVI, Ulrike;
    • STIELER, Karola;
    • MORICE-PICARD, Fanny;
    • SCHÖNBUCHNER, Ines;
    • MARKUS, Susanne;
    • SCHLIPF, Nina;
    • FISCHER, Judith
    Publication type:
    Article

  • Diagnostic value of partial exome sequencing in developmental disorders.

    Published in:
    PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201041
    By:
    • Gieldon, Laura;
    • Mackenroth, Luisa;
    • Kahlert, Anne-Karin;
    • Lemke, Johannes R.;
    • Porrmann, Joseph;
    • Schallner, Jens;
    • von der Hagen, Maja;
    • Markus, Susanne;
    • Weidensee, Sabine;
    • Novotna, Barbara;
    • Soerensen, Charlotte;
    • Klink, Barbara;
    • Wagner, Johannes;
    • Tzschach, Andreas;
    • Jahn, Arne;
    • Kuhlee, Franziska;
    • Hackmann, Karl;
    • Schrock, Evelin;
    • Di Donato, Nataliya;
    • Rump, Andreas
    Publication type:
    Article