N. Cornelius

发表

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.

P. Bross, N. Gregersen, T. Corydon, 2015, JIMD reports.

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

N. Gregersen, T. Corydon, I. Hargreaves, 2013, Human molecular genetics.

Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?

N. Gregersen, R. Olsen, N. Cornelius, 2013, Molecular genetics and metabolism.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

D. Turnbull, E. Holme, B. Andresen, 2007, Brain : a journal of neurology.

Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia

M. Duno, N. Cornelius, 2011, Rheumatology International.

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

N. Gregersen, R. Olsen, N. Cornelius, 2015, Journal of Inherited Metabolic Disease.

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

P. Bross, N. Gregersen, T. Corydon, 2012, Human molecular genetics.

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.

N. Gregersen, T. Corydon, R. Olsen, 2014, Human molecular genetics.

Comparative Assessment of Diagnostic Homologous Recombination Deficiency–Associated Mutational Signatures in Ovarian Cancer

Z. Szallasi, M. Mirza, Z. Sztupinszki, 2021, Clinical Cancer Research.

A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

Z. Tümer, L. Melchior, C. Groth, 2015, Psychiatry Research.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Z. Tümer, I. Damgaard, I. Bache, 2016, Molecular Cytogenetics.

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters.

Z. Tümer, I. Hargreaves, T. Nielsen, 2017, Mitochondrion.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

Z. Tümer, I. Damgaard, I. Bache, 2016, Molecular Cytogenetics.

Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?

N. Gregersen, R. Olsen, N. Cornelius, 2013, Molecular genetics and metabolism.