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New genetic loci link adipose and insulin biology to body fat distribution. Nature 2015;518(7538):187-96.
. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. Ann Rheum Dis 2015;
. Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. Ann Rheum Dis 2015;
. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun 2015;6:7756.
. Sensorineural hearing loss in very low birth weight infants with histological chorioamnionitis. J Matern Fetal Neonatal Med 2015;28(8):895-9.
. Trace samples of human blood in mosquitoes as a forensic investigation tool. Genet Mol Res 2015;14(4):14847-56.
. Trace samples of human blood in mosquitoes as a forensic investigation tool. Genet Mol Res 2015;14(4):14847-56.
. Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. Hear Res 2015;320:18-23.
. . Class IV laser therapy as treatment for chemotherapy-induced oral mucositis in onco-haematological paediatric patients: a prospective study. Int J Paediatr Dent 2014;24(6):441-9.
. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum Mol Genet 2014;23(9):2490-7.
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