12 results on '"Cocchi, Guido"'
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2. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
3. A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
4. The transcriptome profile of human trisomy 21 blood cells
5. One-carbon pathway and cognitive skills in children with Down syndrome
6. Plasma metabolome and cognitive skills in Down syndrome
7. A concave optimization-based approach for sparse multiobjective programming
8. Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism
9. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
10. Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
11. Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study
12. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
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