Browse by Journal Title

2022

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.
Ahmad, I., Khan, A., Noor Ul Ayan, H., Budde, B., Altmüller, J., Korejo, A.A., Nürnberg, G., Thiele, H., Tariq, M., Nürnberg, P. and Erdmann, J.
Journal of Human Genetics 11 October 2022

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).
Boschann, F., Moreno, D.A., Mensah, M.A., Sczakiel, H.L., Skipalova, K., Holtgrewe, M., Mundlos, S. and Fischer-Zirnsak, B.
Journal of Human Genetics 67 (7): 405-410. July 2022

2019

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari, H.S., Sprute, R., Wunderlich, G., Daimagüler, H.S., Karaca, E., Contreras, A., Becker, K., Schulze-Rhonhof, M., Kiening, K., Karakulak, T., Kloss, M., Horn, A., Pauls, A., Nürnberg, P., Altmüller, J., Thiele, H., Assmann, B., Koy, A. and Cirak, S.
Journal of Human Genetics 64 (8): 803-813. August 2019

2014

Quantifying the uncertainty in heritability.
Furlotte, N.A., Heckerman, D. and Lippert, C.
Journal of Human Genetics 59 (5): 269-275. May 2014