http://www.cnr.it/ontology/cnr/individuo/rivista/ID41440

BMC medical genetics

Label

BMC medical genetics (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations. (Articolo in rivista) (Prodotto della ricerca)
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease a multicenter study. (Articolo in rivista) (Prodotto della ricerca)
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. (Articolo in rivista) (Prodotto della ricerca)
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
The role of 9p21.3 locus in severity of coronary artery disease in present and absence of diabetes mellitus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
The value of some Corsican sub-populations for genetic association studies. (Articolo in rivista) (Prodotto della ricerca)
T-786 -> C polymorphism of the endothelial nitric oxide synthase gene is associated with insulin resistance in patients with ischemic or non ischemic cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. (Articolo in rivista) (Prodotto della ricerca)
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report (Articolo in rivista) (Prodotto della ricerca)
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

BMC med. genet. (literal)
BMC medical genetics (literal)
Medical genetics (literal)

Language

eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

1471-2350 (literal)

Preferred label

BMC medical genetics (literal)

Publisher

BioMed Central, London : GBR (literal)

Incoming links:

Rivista

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report (Articolo in rivista) (Prodotto della ricerca)
Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study. (Articolo in rivista) (Prodotto della ricerca)
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations. (Articolo in rivista) (Prodotto della ricerca)
Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility (Articolo in rivista) (Prodotto della ricerca)
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
The value of some Corsican sub-populations for genetic association studies. (Articolo in rivista) (Prodotto della ricerca)
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12 in a European population (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. (Articolo in rivista) (Prodotto della ricerca)
The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
The role of 9p21.3 locus in severity of coronary artery disease in present and absence of diabetes mellitus. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
T-786 -> C polymorphism of the endothelial nitric oxide synthase gene is associated with insulin resistance in patients with ischemic or non ischemic cardiomyopathy (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease a multicenter study. (Articolo in rivista) (Prodotto della ricerca)
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson's disease - a multicenter study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

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