PuSH - Publication Server of Helmholtz Zentrum München

5 Records found.
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1.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
2.
Van Bergen, N.J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 142, 50-58 (2019)
3.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
4.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
5.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)