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Mostrati risultati da 21 a 40 di 117
Titolo Data di pubblicazione Autori File
Variation in the bitter-taste receptor gene TAS2R38, and adiposity in a genetically isolated population in Southern Italy. 1-gen-2008 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency 1-gen-2008 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase 1-gen-2008 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Detection of epidermal thickening in GJB2 carriers with epidermal US. 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families 1-gen-2009 D'Adamo P.Savoia A. +
Age-related hearing loss in four Italian genetic isolates: an epidemiological study. 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Genetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection. 1-gen-2009 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Genetic structure of Europeans: a view from the North-East. 1-gen-2009 GASPARINI, PAOLOD'ADAMO, ADAMO PIO +
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 1-gen-2010 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. 1-gen-2010 D'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 1-gen-2010 D'ADAMO, ADAMO PIO +
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1 1-gen-2011 D'ADAMO, ADAMO PIO +
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 1-gen-2011 ATHANASAKIS, EMMANOUILD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. 1-gen-2011 D'ADAMO, ADAMO PIOCROVELLA, SERGIOATHANASAKIS, EMMANOUILGASPARINI, PAOLO +
Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road 1-gen-2011 GIROTTO, GIORGIAPIRASTU, NicolaD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 1-gen-2011 PIRASTU, NicolaD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. 1-gen-2011 GASPARINI, PAOLOD'ADAMO, ADAMO PIO +
New gene functions in megakaryopoiesis and platelet formation 1-gen-2011 PIRASTU, NicolaD'ADAMO, ADAMO PIOGASPARINI, PAOLO +
Mostrati risultati da 21 a 40 di 117
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