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Publications by Christian Netzer

The Discovery of a LEMD2-Associated Nuclear Envelopathy With Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

American Journal of Human Genetics

English

A Mutation in the 5′-Utr of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type v With Hyperplastic Callus

American Journal of Human Genetics

English

Uniparental Isodisomy as a Cause of Recessive Mendelian Disease: A Diagnostic Pitfall With a Quick and Easy Solution in Medium/Large NGS Analyses

European Journal of Human Genetics

English

Osteogenesis Imperfecta: A Pilot Trial on Treatment With the RANKL-antibody Denosumab

English