Search Results - Schoner, Katharina

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  1. 1
    Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases

    Fetal Pathology of Neural Tube Defects – An Overview of 68 Cases by Schoner, Katharina, Axt-Fliedner, Roland, Bald, Rainer, Fritz, Barbara, Kohlhase, Juergen, Kohl, Thomas, Rehder, Helga

    Published 2017
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  2. 2
    Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene

    Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene by Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

    Published 2011
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  3. 3
    Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit

    Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit by Rehder, Helga, Laccone, Franco, Kircher, Susanne G., Schild, Ralf L., Rapp, Christiane, Bald, Rainer, Schulze, Bernt, Behunova, Jana, Neesen, Juergen, Schoner, Katharina

    Published 2018
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  4. 4
    Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

    Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern by Schoner, Katharina, Witsch‐Baumgartner, Martina, Behunova, Jana, Petrovic, Robert, Bald, Rainer, Kircher, Susanne G., Ramaswamy, Annette, Kluge, Britta, Meyer‐Wittkopf, Matthias, Schmitz, Ralf, Fritz, Barbara, Zschocke, Johannes, Laccone, Franco, Rehder, Helga

    Published 2019
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  5. 5
    Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

    Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain by Neuser, Sonja, Krey, Ilona, Schwan, Annemarie, Abou Jamra, Rami, Bartolomaeus, Tobias, Döring, Jan, Syrbe, Steffen, Plassmann, Margit, Rohde, Stefan, Roth, Christian, Rehder, Helga, Radtke, Maximilian, Le Duc, Diana, Schubert, Susanna, Bermúdez-Guzmán, Luis, Leal, Alejandro, Schoner, Katharina, Popp, Bernt

    Published 2021
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  6. 6
    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia by Wehrle, Anika, Witkos, Tomasz M., Unger, Sheila, Schneider, Judith, Follit, John A., Hermann, Johannes, Welting, Tim, Fano, Virginia, Hietala, Marja, Vatanavicharn, Nithiwat, Schoner, Katharina, Spranger, Jürgen, Schmidts, Miriam, Zabel, Bernhard, Pazour, Gregory J., Bloch-Zupan, Agnes, Nishimura, Gen, Superti-Furga, Andrea, Lowe, Martin, Lausch, Ekkehart

    Published 2019
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