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Modulation of genetic associations with serum urate levels by body-mass-index in humans. PLoS One 2015;10(3):e0119752..
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012;7(8):e43799..
Multicohort analysis of the maternal age effect on recombination. Nat Commun 2015;6:7846..
Multiple loci are associated with white blood cell phenotypes. PLoS Genet 2011;7(6):e1002113..
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80..
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6..
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. Eur J Hum Genet 2019;27(1):70-79..
Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. Sci Rep 2016;6:31590..
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension 2017;.
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7..
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2..