نتائج البحث - Hackmann, Karl

Characterization of the Binding Protein-Dependent Cellobiose and Cellotriose Transport System of the Cellulose Degrader Streptomyces reticuli حسب Schlösser, Andreas, Jantos, Jens, Hackmann, Karl, Schrempf, Hildgund

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Clinical phenotypes of MAGEL2 mutations and deletions حسب Buiting, Karin, Di Donato, Nataliya, Beygo, Jasmin, Bens, Susanne, von der Hagen, Maja, Hackmann, Karl, Horsthemke, Bernhard

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Partial deletion of GLRB and GRIA2 in a patient with intellectual disability حسب Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya

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An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene حسب Manoharan, Jerena, Lopez, Caroline L, Hackmann, Karl, Albers, Max B, Pehl, Anika, Kann, Peter H, Slater, Emily P, Schröck, Evelin, Bartsch, Detlef K

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Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure حسب Yu, Shengqiang, Hackmann, Karl, Gao, Jianggang, He, Xiaobing, Piontek, Klaus, García González, Miguel A., Menezes, Luis F., Xu, Hangxue, Germino, Gregory G., Zuo, Jian, Qian, Feng

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Universal Tre (uTre) recombinase specifically targets the majority of HIV-1 isolates حسب Karpinski, Janet, Chemnitz, Jan, Hauber, Ilona, Abi-Ghanem, Josephine, Paszkowski-Rogacz, Maciej, Surendranath, Vineeth, Chakrabort, Debojyoti, Hackmann, Karl, Schröck, Evelin, Teresa Pisabarro, María, Hauber, Joachim, Buchholz, Frank

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Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas حسب Abou-El-Ardat, Khalil, Seifert, Michael, Becker, Kerstin, Eisenreich, Sophie, Lehmann, Matthias, Hackmann, Karl, Rump, Andreas, Meijer, Gerrit, Carvalho, Beatriz, Temme, Achim, Schackert, Gabriele, Schröck, Evelin, Krex, Dietmar, Klink, Barbara

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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity حسب Penkert, Judith, Schmidt, Gunnar, Hofmann, Winfried, Schubert, Stephanie, Schieck, Maximilian, Auber, Bernd, Ripperger, Tim, Hackmann, Karl, Sturm, Marc, Prokisch, Holger, Hille-Betz, Ursula, Mark, Dorothea, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris

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Isolation, Characterization, and Differentiation of Progenitor Cells from Human Adult Adrenal Medulla حسب Santana, Magda M., Chung, Kuei-Fang, Vukicevic, Vladimir, Rosmaninho-Salgado, Joana, Kanczkowski, Waldemar, Cortez, Vera, Hackmann, Karl, Bastos, Carlos A., Mota, Alfredo, Schrock, Evelin, Bornstein, Stefan R., Cavadas, Cláudia, Ehrhart-Bornstein, Monika

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Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples حسب Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wimberger, Pauline, Baretton, Gustavo, Schröck, Evelin, Aust, Daniela, Klink, Barbara

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Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing حسب Eisenreich, Sophie, Abou-El-Ardat, Khalil, Szafranski, Karol, Campos Valenzuela, Jaime A., Rump, Andreas, Nigro, Janice M., Bjerkvig, Rolf, Gerlach, Eva-Maria, Hackmann, Karl, Schröck, Evelin, Krex, Dietmar, Kaderali, Lars, Schackert, Gabriele, Platzer, Matthias, Klink, Barbara

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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome حسب Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.

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Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice حسب Hauber, Ilona, Hofmann-Sieber, Helga, Chemnitz, Jan, Dubrau, Danilo, Chusainow, Janet, Stucka, Rolf, Hartjen, Philip, Schambach, Axel, Ziegler, Patrick, Hackmann, Karl, Schröck, Evelin, Schumacher, Udo, Lindner, Christoph, Grundhoff, Adam, Baum, Christopher, Manz, Markus G., Buchholz, Frank, Hauber, Joachim

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 حسب Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane

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Diagnostic value of partial exome sequencing in developmental disorders حسب 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

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Correction: Diagnostic value of partial exome sequencing in developmental disorders حسب 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

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Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy حسب Marrone, Lara, Poser, Ina, Casci, Ian, Japtok, Julia, Reinhardt, Peter, Janosch, Antje, Andree, Cordula, Lee, Hyun O., Moebius, Claudia, Koerner, Ellen, Reinhardt, Lydia, Cicardi, Maria Elena, Hackmann, Karl, Klink, Barbara, Poletti, Angelo, Alberti, Simon, Bickle, Marc, Hermann, Andreas, Pandey, Udai Bhan, Hyman, Anthony A., Sterneckert, Jared L.

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches حسب Gieldon, Laura, William, Doreen, Hackmann, Karl, Jahn, Winnie, Jahn, Arne, Wagner, Johannes, Rump, Andreas, Bechmann, Nicole, Nölting, Svenja, Knösel, Thomas, Gudziol, Volker, Constantinescu, Georgiana, Masjkur, Jimmy, Beuschlein, Felix, Timmers, Henri JLM, Canu, Letizia, Pacak, Karel, Robledo, Mercedes, Aust, Daniela, Schröck, Evelin, Eisenhofer, Graeme, Richter, Susan, Klink, Barbara

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Vitamin K antagonism impairs the bone marrow microenvironment and hematopoiesis حسب Verma, Divij, Kumar, Rahul, Pereira, Raquel S., Karantanou, Christina, Zanetti, Costanza, Minciacchi, Valentina R., Fulzele, Keertik, Kunz, Kathrin, Hoelper, Soraya, Zia-Chahabi, Sara, Jabagi, Marie-Joëlle, Emmerich, Joseph, Dray-Spira, Rosemary, Kuhlee, Franziska, Hackmann, Karl, Schroeck, Evelin, Wenzel, Philip, Müller, Stefan, Filmann, Natalie, Fontenay, Michaela, Pajevic, Paola Divieti, Krause, Daniela S.

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

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