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Dr. med. Judit Horvath

Current affiliations

Institute of Human Genetics

Publications

Mitochondrial DNA mutations in Medulloblastoma Funke V.L.E.; Sandmann S.; Melcher V.; Seggewiss J.; Horvath J.; Jäger N.; Kool M.; Jones D.T.W.; Pfister S.M.; Milde T.; Rutkowski S.; Mynarek M.; Varghese J.; Sträter R.; Rust S.; Seelhöfer A.; Reunert J.; Fiedler B.; Schüller U.; Marquardt T.; Kerl K. (2023) In: Acta neuropathologica communications, 11(1) Type of Publication: Research article (journal)
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021) In: PLoS Genetics, 17(2) Type of Publication: Research article (journal)
L-Fucose treatment of FUT8-CDG. Park JH, Reunert J, He M, Mealer RG, Noel M, Wada Y, Grüneberg M, Horváth J, Cummings RD, Schwartz O, Marquardt T (2020) In: Molecular Genetics and Metabolism Reports, 25 Type of Publication: Research article (journal)
Four novel NR5A1 mutations in 46,XY gonadal dysgenesis patients including frameshift mutations with altered subcellular SF-1 localization Rehkämper J., Tewes A., Horvath J., Scherer G., Wieacker P., Ledig S. (2018) In: Sexual Development, 11(null) Type of Publication: Research article (journal)
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian… Hauke J, Horvath J, Gross E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber BHF, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmuller J, Volk AE, Thiele H, Hubbel V, Nurnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler RK, Hahnen E (2018) In: Cancer medicine, 7(4) Type of Publication: Research article (journal)

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