Hasil Pencarian - Nataliya Di Donato

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  1. 1
    Current genetic diagnostics in inborn errors of immunity

    Current genetic diagnostics in inborn errors of immunity oleh Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann

    Diterbitkan 2024-04-01
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  2. 2
    Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene

    Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene oleh Wener Li, Sarah Henze, Xiaojing Luo, Ying Ulbricht, Anja Richter, Nataliya Di Donato, Arthur A.M. Wilde, Kaomei Guan

    Diterbitkan 2021-05-01
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  3. 3
    Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics

    Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics oleh Johannes N. Greve, Frederic V. Schwäbe, Thomas Pokrant, Jan Faix, Nataliya Di Donato, Manuel H. Taft, Dietmar J. Manstein

    Diterbitkan 2022-04-01
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  4. 4
    The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins

    The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins oleh Johannes N Greve, Anja Marquardt, Robin Heiringhoff, Theresia Reindl, Claudia Thiel, Nataliya Di Donato, Manuel H Taft, Dietmar J Manstein

    Diterbitkan 2024-03-01
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  5. 5
    DNA methylation changes associated with cannabis use and verbal learning performance in adolescents: an exploratory whole genome methylation study

    DNA methylation changes associated with cannabis use and verbal learning performance in adolescents: an exploratory whole genome methylation study oleh Melina Wiedmann, Sören Kuitunen-Paul, Lukas Andreas Basedow, Max Wolff, Nataliya DiDonato, Julia Franzen, Wolfgang Wagner, Veit Roessner, Yulia Golub

    Diterbitkan 2022-08-01
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  6. 6
    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene oleh Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak

    Diterbitkan 2019-10-01
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  7. 7
    Diagnostic value of partial exome sequencing in developmental disorders.

    Diagnostic value of partial exome sequencing in developmental disorders. oleh Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    Diterbitkan 2018-01-01
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  8. 8
    Correction: Diagnostic value of partial exome sequencing in developmental disorders.

    Correction: Diagnostic value of partial exome sequencing in developmental disorders. oleh Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    Diterbitkan 2020-01-01
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  9. 9
    Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

    Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. oleh Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink

    Diterbitkan 2016-08-01
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  10. 10
    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia oleh Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Diterbitkan 2018-10-01
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  11. 11
    Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia oleh Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Diterbitkan 2018-11-01
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  12. 12
    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

    Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. oleh Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

    Diterbitkan 2017-03-01
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