8 results on '"Filocamo, M."'
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2. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease
3. Mutations among Italian mucopolysaccharidosis type I patients
4. Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta
5. Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease
6. Sjögren-Larsson syndrome: Nuclear magnetic resonance imaging of the brain in a 4-year-old boy
7. Radiological “metamorphosis” in a patient with severe congenital osteogenesis imperfecta
8. Detection of carriers and prenatal diagnosis for fucosidosis in Calabria
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