檢索結果 - 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 由 Schoner, Katharina, Axt-Fliedner, Roland, Bald, Rainer, Fritz, Barbara, Kohlhase, Juergen, Kohl, Thomas, Rehder, Helga

    出版 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 由 Laccone, Franco, Schoner, Katharina, Krabichler, Birgit, Kluge, Britta, Schwerdtfeger, Robin, Schulze, Bernt, Zschocke, Johannes, Rehder, Helga

    出版 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 由 Rehder, Helga, Laccone, Franco, Kircher, Susanne G., Schild, Ralf L., Rapp, Christiane, Bald, Rainer, Schulze, Bernt, Behunova, Jana, Neesen, Juergen, Schoner, Katharina

    出版 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 由 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

    出版 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 由 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

    出版 2021
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  6. 6
    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

    Hypomorphic mutations of TRIP11 cause odontochondrodysplasia 由 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

    出版 2019
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