8 results on '"Calcia, Alessandro"'
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2. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
3. Cover Image, Volume 170A, Number 7, July 2016
4. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
5. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
6. Two families with novel missense mutations in COL4A1: When diagnosis can be missed
7. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
8. Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
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