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Your search keyword '"Mancini, Grazia M.S."' showing total 7 results

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7 results on '"Mancini, Grazia M.S."'

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1. Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum

3. Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

4. GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

5. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1

6. Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

7. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

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