检索结果 - Boeckelmann, Doris

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  1. 1
    Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study

    Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study 由 Neubauer, Katharina, Boeckelmann, Doris, Koehler, Udo, Kracht, Julia, Kirschner, Janbernd, Pendziwiat, Manuela, Zieger, Barbara

    出版 2018
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  2. 2
    A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies

    A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies 由 Boeckelmann, Doris, Wolter, Mira, Käsmann-Kellner, Barbara, Koehler, Udo, Schieber-Nakamura, Lea, Zieger, Barbara

    出版 2021
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  3. 3
    Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

    Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7) 由 Boeckelmann, Doris, Wolter, Mira, Neubauer, Katharina, Sobotta, Felix, Lenz, Antonia, Glonnegger, Hannah, Käsmann-Kellner, Barbara, Mann, Jasmin, Ehl, Stephan, Zieger, Barbara

    出版 2022
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    Naturally Occurring Point Mutation Cys460Trp Located in the I-EGF1 Domain of Integrin β3 Alters the Binding of Some anti-HPA-1a Antibodies

    Naturally Occurring Point Mutation Cys460Trp Located in the I-EGF1 Domain of Integrin β3 Alters the Binding of Some anti-HPA-1a Antibodies 由 Holzwarth, Sarah Theresa, Bayat, Behnaz, Zhu, Jieqing, Phuangtham, Roongaroon, Fischer, Lars, Boeckelmann, Doris, Roeder, Lida, Berghöfer, Heike, Schmidt, Silke, Bein, Gregor, Santoso, Sentot

    出版 2020
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