10 results on '"Donà, Marta"'
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2. Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
3. Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
4. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay
5. First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis
6. 14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?
7. High‐Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
8. De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature
9. Pharmacologic treatment of hyperthyroidism during pregnancy
10. 6q27 subtelomeric deletions: Is there a specific phenotype?
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