List of works - Elsebet Østergaard - Paulina

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List of works by Elsebet Østergaard

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Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

scientific article published on March 11, 2011

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

scientific article

Mutations inCOA3cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

scientific article published on January 20, 2015

Hearing impairment and renal failure associated with RMND1 mutations

scientific article published on September 23, 2015

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome in the Faroe Islands

scientific article published on 05 September 2012

A mitochondrial tRNAMet mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood

scientific article published on November 1, 2014

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

scientific article published on June 25, 2015

Genotype and phenotype classification of 29 patients affected by Krabbe disease

scientific article published on 14 March 2019