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dr. K.E. (Klary E) Niezen-Koning

European Clinical Laboratory Geneticist (Biochemist, PhD, ErCLG) Metabolic Diseases
Profielfoto van dr. K.E. (Klary E) Niezen-Koning
E-mail:
k.e.niezen-koning rug.nl

Publicaties

Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants

Gut Microbiome Composition in Dystonia Patients

Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease

Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients

The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

The past and presence of gene targeting: from chemicals and DNA via proteins to RNA

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

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