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Indelicato, E.* ; Zech, M. ; Amprosi, M.* & Boesch, S.*: Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue. Orphanet J. Rare Dis. 17:55 (2022)
Rus, C.M.* et al.: Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center. Orphanet J. Rare Dis. 17:179 (2022)
Meixner, I.* et al.: Retained primary teeth in STAT3 hyper-IgE syndrome: Early intervention in childhood is essential. Orphanet J. Rare Dis. 15:244 (2020)
Catania, A.* et al.: Arabidopsis thaliana alternative dehydrogenases: A potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet J. Rare Dis. 14:236 (2019)
Adler, A.* et al.: PhenoDis: A comprehensive database for phenotypic characterization of rare cardiac diseases. Orphanet J. Rare Dis. 13:22 (2018)
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)
Röeben, B.* et al.: Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function. Orphanet J. Rare Dis. 12:135 (2017)
Koch, J.* et al.: Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)
Haghighi, A.* et al.: Sengers syndrome: Six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J. Rare Dis. 9:119 (2014)