Stefan Kölker

Latest

• Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
• Comparative analysis of gene and disease selection in genomic newborn screening studies
• aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
• Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
• Unmet Needs of Parents of Children with Urea Cycle Disorders
• Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
• Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
• Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
• Refining genotypes and phenotypes in KCNA2-related neurological disorders
• Empfehlungen zur intrazerebralen Gentherapie des Aromatischen L-Aminosäure- Decarboxylase-Mangels mit Eladocagene exuparvovec (Upstaza®)
• The Economic Impact of Innovative Therapies for Rare Diseases on Healthcare Providers and the Healthcare System in Germany – The Example of Spinal Muscular Atrophy
• Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
• The quantification of 3-O-methyldopa in dried blood spots enables high-throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency
• High Throughput Newborn Screening for Aromatic L-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots