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Journal Article
Kropatsch, Regina, Dekomien, Gabriele, Akkad, Denis A., Gerding, Wanda M., Petrasch-Parwez, Elisabeth, Young, Neil D., Altmueller, Janine, Nuernberg, Peter, Gasser, Robin B. and Epplen, Joerg T. ORCID: 0000-0002-6087-3327
(2013).
SOX9 Duplication Linked to Intersex in Deer.
PLoS One, 8 (9).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1932-6203
Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma ORCID: 0000-0002-3810-306X, Hanna, Michael
ORCID: 0000-0003-0825-4075, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens
ORCID: 0000-0003-3349-6877, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz and Gautel, Mathias
(2021).
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol., 141 (3).
S. 431 - 454.
NEW YORK:
SPRINGER.
ISSN 1432-0533
Tuerk, Matthias, Schroeder, Rolf, Khuller, Katharina, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Berwanger, Carolin, Ludolph, Albert C., Dekomien, Gabriele, Mueller, Kathrin, Weishaupt, Jochen H., Thiel, Christian T. and Clemen, Christoph S.
(2017).
Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients.
Neurobiol. Aging, 56.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1558-1497
Unger, Andreas, Dekomien, Gabriele, Guettsches, Anne, Dreps, Thomas, Kley, Rudolf, Tegenthoff, Martin, Ferbert, Andreas, Weis, Joachim, Heyer, Christoph, Linke, Wolfgang A., Martinez-Carrera, Lilian, Storbeck, Markus, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Hoffjan, Sabine and Vorgerd, Matthias
(2016).
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Neurology, 87 (21).
S. 2235 - 2244.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X