Claudia Cozma
Werke:
- Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
- Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
- Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
- Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report