Group by:
Date |
Item TypeArticle
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
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
Quantifying the uncertainty in heritability.
Furlotte, N.A., Heckerman, D. and Lippert, C.
Journal of Human Genetics 59
(5): 269-275.
May 2014
Letter
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
This list was generated on Sun Jun 1 21:24:08 2025 UTC.