Universität zu Köln

Journal Article

Ahmad, Ilyas ORCID: 0000-0003-4845-9227, Khan, Ayaz ORCID: 0000-0002-4743-7387, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmueller, Janine, Korejo, Asad Aslam, Nurnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nuernberg, Peter and Erdmann, Jeanette (2023). A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum. Genet., 68 (2). S. 107 - 110. LONDON: SPRINGERNATURE. ISSN 1435-232X

Almontashiri, Naif A. M., Chen, Hsiao-Huei ORCID: 0000-0003-2914-6057, Mailloux, Ryan J., Tatsuta, Takashi, Teng, Allen C. T., Mahmoud, Ahmad B., Ho, Tiffany, Stewart, Nicolas A. S., Rippstein, Peter, Harper, Mary Ellen, Roberts, Robert, Willenborg, Christina ORCID: 0000-0001-5217-6882, Erdmann, Jeanette ORCID: 0000-0002-4486-6231, Pastore, Annalisa, McBride, Heidi M., Langer, Thomas ORCID: 0000-0003-1250-1462 and Stewart, Alexandre F. R. (2014). SPG7 Variant Escapes Phosphorylation-Regulated Processing by AFG3L2, Elevates Mitochondrial ROS, and Is Associated with Multiple Clinical Phenotypes. Cell Reports, 7 (3). S. 834 - 848. CAMBRIDGE: CELL PRESS. ISSN 2211-1247

Gehlen, Jan, Stundl, Anja, Debiec, Radoslaw ORCID: 0000-0003-2292-467X, Fontana, Federica, Krane, Markus, Sharipova, Dinara ORCID: 0000-0002-2267-831X, Nelson, Christopher P., Al-Kassou, Baravan, Giel, Ann Sophie, Sinning, Jan Malte, Bruenger, Christopher M. H., Zelck, Carolin F., Koebbe, Laura L., Braund, Peter S., Webb, Thomas R., Hetherington, Simon, Ensminger, Stephan, Fujita, Buntaro, Mohamed, Salah A., Shrestha, Malakh, Krueger, Heike, Siepe, Matthias, Kari, Fabian Alexander, Nordbeck, Peter ORCID: 0000-0002-2560-4068, Buravezky, Larissa, Kelm, Malte, Veulemans, Verena, Adam, Matti, Baldus, Stephan, Laugwitz, Karl Ludwig, Haas, Yannick, Karck, Matthias, Mehlhorn, Uwe, Conzelmann, Lars Oliver, Breitenbach, Ingo, Lebherz, Corinna, Urbanski, Paul, Kim, Won Keun, Kandels, Joscha, Ellinghaus, David, Nowak-Goettl, Ulrike, Hoffmann, Per, Wirth, Felix, Doppler, Stefanie, Lahm, Harald, Dressen, Martina, von Scheidt, Moritz, Knoll, Katharina, Kessler, Thorsten ORCID: 0000-0003-3326-1621, Hengstenberg, Christian, Schunkert, Heribert, Nickenig, Georg, Noethen, Markus M., Bolger, Aidan P., Abdelilah-Seyfried, Salim, Samani, Nilesh J., Erdmann, Jeanette, Trenkwalder, Teresa and Schumacher, Johannes . Elucidation of the genetic causes of bicuspid aortic valve disease. Cardiovasc. Res.. OXFORD: OXFORD UNIV PRESS. ISSN 1755-3245

Ramzan, Shafaq, Tennstedt, Stephanie ORCID: 0000-0001-9063-3087, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Khan, Sheraz ORCID: 0000-0003-3207-4074, Ul Ayan, Hafiza Noor, Ali, Aamir, Munz, Matthias, Thiele, Holger, Korejo, Asad Aslam, Mughal, Abdul Razzaq, Jamal, Syed Zahid, Nuernberg, Peter, Baig, Shahid Mahmood, Erdmann, Jeanette ORCID: 0000-0002-4486-6231 and Ahmad, Ilyas (2021). A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes, 12 (8). BASEL: MDPI. ISSN 2073-4425

Schwarm, Christian, Gola, Damian, Holtsche, Maike M., Dieterich, Anabelle, Bhandari, Anita, Freitag, Miriam, Nuernberg, Peter, Toliat, Mohammad, Lieb, Wolfgang, Wittig, Michael, Franke, Andre ORCID: 0000-0003-1530-5811, Worm, Margitta, Sticherling, Michael, Ehrchen, Jan, Guenther, Claudia, Glaeser, Regine, Peitsch, Wiebke K., Sardy, Miklos, Eming, Ruediger, Hertl, Michael, Benoit, Sandrine, Goebeler, Matthias, Pfoehler, Claudia, Kunz, Manfred, Kreuter, Alexander ORCID: 0000-0003-2275-499X, van Beek, Nina, Erdmann, Jeanette ORCID: 0000-0002-4486-6231, Busch, Hauke, Zillikens, Detlef, Sadik, Christian D., Hirose, Misa, Koenig, Inke R., Schmidt, Enno and Ibrahim, Saleh M. (2021). Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and-DRB1*07:01, in Germans. Orphanet J. Rare Dis., 16 (1). LONDON: BMC. ISSN 1750-1172