PuSH - Publication Server of Helmholtz Zentrum München

3 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
Lay all publications on this page into basket
1.
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
2.
Reinthaler, E.M.* et al.: 16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum. Mol. Genet. 23, 6069-6080 (2014)
3.
Asmus, F.* et al.: Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 130, 2736-2745 (2007)