Works by Streubel, Berthold


Results: 56
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    Diagnostic strategy for females suspected of Fabry disease.

    Published in:
    Clinical Genetics, 2020, v. 97, n. 4, p. 655, doi. 10.1111/cge.13694
    By:
    • Balendran, Sukirthini;
    • Oliva, Petra;
    • Sansen, Stefaan;
    • Mechtler, Thomas P.;
    • Streubel, Berthold;
    • Cobos, Paulina N.;
    • Lukacs, Zoltan;
    • Kasper, David C.
    Publication type:
    Article
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    TNFAIP3 abnormalities in MALT lymphoma with autoimmunity.

    Published in:
    British Journal of Haematology, 2011, v. 154, n. 4, p. 535, doi. 10.1111/j.1365-2141.2011.08624.x
    By:
    • Chanudet, Estelle;
    • Yuanxue Huang;
    • Naiyan Zeng;
    • Streubel, Berthold;
    • Chott, Andreas;
    • Raderer, Markus;
    • Ming-Qing Du
    Publication type:
    Article
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    SOD1 gene screening in ALS – frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025, v. 26, n. 1/2, p. 162, doi. 10.1080/21678421.2024.2401131
    By:
    • Meyer, Thomas;
    • Schumann, Peggy;
    • Grehl, Torsten;
    • Weyen, Ute;
    • Petri, Susanne;
    • Rödiger, Annekathrin;
    • Steinbach, Robert;
    • Grosskreutz, Julian;
    • Bernsen, Sarah;
    • Weydt, Patrick;
    • Wolf, Joachim;
    • Günther, René;
    • Vidovic, Maximilian;
    • Baum, Petra;
    • Metelmann, Moritz;
    • Weishaupt, Jochen H.;
    • Streubel, Berthold;
    • Kasper, David C.;
    • Koc, Yasemin;
    • Kettemann, Dagmar
    Publication type:
    Article
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    Correlation of cytogenetic, molecular cytogenetic, and clinical findings in 59 patients with ANLL or MDS and abnormalities of the short arm of chromosome 12.

    Published in:
    British Journal of Haematology, 1998, v. 100, n. 3, p. 521, doi. 10.1046/j.1365-2141.1998.00591.x
    By:
    • Streubel, Berthold;
    • Sauerland, Cristina;
    • Heil, Gerhard;
    • Freund, Mathias;
    • Bartels, Heinrich;
    • Lengfelder, Eva;
    • Wandt, Hannes;
    • Ludwig, Wolf-Dieter;
    • Nowotny, Hadwiga;
    • Baldus, Michael;
    • Grothaus-Pinke, Bernward;
    • Büchner, Thomas;
    • Fonatsch, Christa
    Publication type:
    Article
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    FOLFOX4 Plus Cetuximab for Patients With Previously Untreated Metastatic Colorectal Cancer According to Tumor RAS an Status: Updated Analysis of the CECOG/CORE 1.2.002 Study.

    Published in:
    Clinical Colorectal Cancer, 2015, v. 14, n. 2, p. 91, doi. 10.1016/j.clcc.2014.12.003
    By:
    • Kaczirek, Klaus;
    • Ciuleanu, Tudor E.;
    • Vrbanec, Damir;
    • Marton, Erika;
    • Messinger, Diethelm;
    • Liegl-Atzwanger, Bernadette;
    • Wrba, Fritz;
    • Knittelfelder, Regina;
    • Lindner, Elisabeth;
    • Zielinski, Christoph C.;
    • Streubel, Berthold;
    • Brodowicz, Thomas
    Publication type:
    Article
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    Amplification of ribosomal RNA genes in acute myeloid leukemia.

    Published in:
    Genes, Chromosomes & Cancer, 2001, v. 32, n. 1, p. 11, doi. 10.1002/gcc.1161
    By:
    • Fonatsch, Christa;
    • Nowotny, Hadwiga;
    • Pittermann-Höcker, Elisabeth;
    • Streubel, Berthold;
    • Jäger, Ulrich;
    • Valent, Peter;
    • Büchner, Thomas;
    • Lechner, Klaus
    Publication type:
    Article
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    Prenatal genetic counseling and consanguinity.

    Published in:
    Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1133, doi. 10.1002/pd.3971
    By:
    • Posch, Angela;
    • Springer, Stephanie;
    • Langer, Martin;
    • Blaicher, Wibke;
    • Streubel, Berthold;
    • Schmid, Maximilian
    Publication type:
    Article
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    Mutant IDH1 inhibits PI3K/Akt signaling in human glioma.

    Published in:
    Cancer (0008543X), 2014, v. 120, n. 16, p. 2440, doi. 10.1002/cncr.28732
    By:
    • Birner, Peter;
    • Pusch, Stefan;
    • Christov, Christo;
    • Mihaylova, Stiliana;
    • Toumangelova‐Uzeir, Kalina;
    • Natchev, Sevdalin;
    • Schoppmann, Sebastian F.;
    • Tchorbanov, Andrey;
    • Streubel, Berthold;
    • Tuettenberg, Jochen;
    • Guentchev, Marin
    Publication type:
    Article
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    Combination of two different homozygote mutations in Pompe disease.

    Published in:
    Pediatrics International, 2016, v. 58, n. 3, p. 241, doi. 10.1111/ped.12873
    By:
    • Arslan, Alev;
    • Poyrazoğlu, Hatice Gamze;
    • Kiraz, Aslihan;
    • Özcan, Alper;
    • Işık, Halid;
    • Ergul, Ayse Betül;
    • Mungan, Neslihan Önenli;
    • Streubel, Berthold;
    • Ceylaner, Serdar;
    • Altuner Torun, Yasemin
    Publication type:
    Article
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    Identification of a rare COCH mutation by whole-exome sequencing.

    Published in:
    Wiener Klinische Wochenschrift, 2018, v. 130, n. 9/10, p. 299, doi. 10.1007/s00508-017-1230-y
    By:
    • Parzefall, Thomas;
    • Frohne, Alexandra;
    • Koenighofer, Martin;
    • Kirchnawy, Andreas;
    • Streubel, Berthold;
    • Schoefer, Christian;
    • Gstoettner, Wolfgang;
    • Frei, Klemens;
    • Lucas, Trevor
    Publication type:
    Article
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    WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
    By:
    • Vodopiutz, Julia;
    • Seidl, Rainer;
    • Prayer, Daniela;
    • Khan, M. Imran;
    • Mayr, Johannes A.;
    • Streubel, Berthold;
    • Steiß, Jens‐Oliver;
    • Hahn, Andreas;
    • Csaicsich, Dagmar;
    • Castro, Christel;
    • Assoum, Mirna;
    • Müller, Thomas;
    • Wieczorek, Dagmar;
    • Mancini, Grazia M. S.;
    • Sadowski, Carolin E.;
    • Lévy, Nicolas;
    • Mégarbané, André;
    • Godbole, Koumudi;
    • Schanze, Denny;
    • Hildebrandt, Friedhelm
    Publication type:
    Article