A Genome-Wide, Fine-Scale Map of Natural Pigmentation Variation in Drosophila melanogaster

por Bastide, Héloïse, Betancourt, Andrea, Nolte, Viola, Tobler, Raymond, Stöbe, Petra, Futschik, Andreas, Schlötterer, Christian
Publicado 2013

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

por Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike
Publicado 2021

Multifactorial Regulation of a Hox Target Gene

por Stöbe, Petra, Stein, Sokrates M. A., Habring-Müller, Anette, Bezdan, Daniela, Fuchs, Aurelia L., Hueber, Stefanie D., Wu, Haijia, Lohmann, Ingrid
Publicado 2009

Correction: Multifactorial Regulation of a Hox Target Gene

por Stöbe, Petra, Stein, M. A. Sokrates, Habring-Müller, Anette, Bezdan, Daniela, Fuchs, Aurelia L., Hueber, Stefanie D., Wu, Haijia, Lohmann, Ingrid
Publicado 2009

Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

por Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stöbe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan, Schwaibold, Eva M.C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten, Haack, Tobias B.
Publicado 2021

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

por Tropitzsch, Anke, Schade-Mann, Thore, Gamerdinger, Philipp, Dofek, Saskia, Schulte, Björn, Schulze, Martin, Fehr, Sarah, Biskup, Saskia, Haack, Tobias B., Stöbe, Petra, Heyd, Andreas, Harre, Jennifer, Lesinski-Schiedat, Anke, Büchner, Andreas, Lenarz, Thomas, Warnecke, Athanasia, Müller, Marcus, Vona, Barbara, Dahlhoff, Ernst, Löwenheim, Hubert, Holderried, Martin
Publicado 2023

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

por Falb, Ruth J, Müller, Amelie J, Klein, Wolfram, Grimmel, Mona, Grasshoff, Ute, Spranger, Stephanie, Stöbe, Petra, Gauck, Darja, Kuechler, Alma, Dikow, Nicola, Schwaibold, Eva M C, Schmidt, Christoph, Averdunk, Luisa, Buchert, Rebecca, Heinrich, Tilman, Prodan, Natalia, Park, Joohyun, Kehrer, Martin, Sturm, Marc, Kelemen, Olga, Hartmann, Silke, Horn, Denise, Emmerich, Dirk, Hirt, Nina, Neumann, Armin, Kristiansen, Glen, Gembruch, Ulrich, Haen, Susanne, Siebert, Reiner, Hentze, Sabine, Hoopmann, Markus, Ossowski, Stephan, Waldmüller, Stephan, Beck-Wödl, Stefanie, Gläser, Dieter, Tekesin, Ismail, Distelmaier, Felix, Riess, Olaf, Kagan, Karl-Oliver, Dufke, Andreas, Haack, Tobias B
Publicado 2023

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

por Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Publicado 2021