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2. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

4. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

9. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

13. The rate of Purine Synthesis de nova in Blood Mononuclear Cells in vitro from Patients with Familial Hyperuricaemic Nephropathy

15. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

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