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Autore Titolo [ Tipo] Anno Filtri: Autore è d'Adamo, Adamo P [Clear All Filters]
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.
. Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. J Med Genet 2011;48(6):369-74.
. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet 2014;46(8):826-36.
. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A 2014;164A(1):42-7.
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