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2023
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
2021
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
2014
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