Area of research
Epidemiology · Mechanical Engineering
Research interest
Research focused on Osteopetrosis and Missense mutation, with related work in Stem cell, Encephalopathy, Guideline. Notable publications include 'Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis', 'Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation', and 'New recommendations on cerebral venous and dural sinus thrombosis from the German consensus-based (S2k) guideline'.
New recommendations on cerebral venous and dural sinus thrombosis from the German consensus-based (S2k) guideline
Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis
Molecular Genetics in Brain Tumors – Case Report of a 7-year-old Girl with Recurrent Glioblastoma
Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation
MRI in pediatric neck abscesses