Search

Search Constraints

You searched for: Author/Creator Morava, Eva

Search Results

22. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease. Issue 11 (18th October 2021)

25. Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. Issue 1 (24th October 2020)

27. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. Issue 1 (25th November 2019)

29. Inborn errors of metabolism with 3‐methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. Issue 6 (8th January 2013)

30. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection–Electrospray Ionization–Quadrupole Time-of-Flight Mass Spectrometry. (1st May 2019)