PuSH - Publication Server of Helmholtz Zentrum München

3 Records found.
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1.
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
2.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
3.
Pronicka, E.* et al.: A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J. Inherit. Metab. Dis. 40, 853-860 (2017)