PuSH - HMGU Publikationen https://push-zb.helmholtz-munich.de PuSH - Publikationen-Server des Helmholtz Zentrums München de-de <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64358&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64358&la=de Tue, 28 Jun 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64949&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=64949&la=de Tue, 24 May 2022 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60066&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=60066&la=de Thu, 29 Oct 2020 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57215&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57215&la=de Wed, 06 Nov 2019 00:00:00 +0000 <![CDATA[Adler, A.* et al. PhenoDis: A comprehensive database for phenotypic characterization of rare cardiac diseases. Orphanet J. Rare Dis. 13:22 (2018)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52807&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=52807&la=de Thu, 22 Mar 2018 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53972&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53972&la=de Tue, 24 Jul 2018 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51691&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=51691&la=de Fri, 08 Sep 2017 00:00:00 +0000 <![CDATA[Koch, J.* et al. Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44741&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=44741&la=de Fri, 08 May 2015 00:00:00 +0000 <![CDATA[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)]]> https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32498&la=de https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=32498&la=de Thu, 09 Oct 2014 00:00:00 +0000