Eva Morava

发表

Table 3. [New Classification for Inborn Errors...].

Saskia B Wortmann, Arjan P.M. de Brouwer, Ron A Wevers, 2014 .

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Saskia B Wortmann, Eva Morava, Martin Lammens, 2011, European Journal of Human Genetics.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

NMR spectroscopic studies on the late onset form of 3‐methylglutaconic aciduria type I and other defects in leucine metabolism

Eva Morava, Detlef Moskau, Marinette van der Graaf, 2006, NMR in biomedicine.

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Ron A Wevers, Eva Morava, Suzan Wopereis, 2006, Clinical chemistry.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

Gert Matthijs, Dirk Lefeber, Peter Nürnberg, 2008, Nature Genetics.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Simona Lucioli, Ron A Wevers, Eva Morava, 2007, Brain : a journal of neurology.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Charles E. Schwartz, Eva Morava, Denise Horn, 2003, Nature Genetics.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.