Publikationen in Zusammenarbeit mit Forschern von University of Innsbruck (4)

2019

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  2. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1