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Your search keyword '"Adriana Carando"' showing total 9 results

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9 results on '"Adriana Carando"'

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1. High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

2. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

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4. Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

5. Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

6. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

7. Identification of defective Fas function and variation of the perforin gene in an epidermodysplasia verruciformis patient lacking EVER1 and EVER2 mutations

8. Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency

9. Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family