European journal of human genetics

Label

• European journal of human genetics (literal)

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

• Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls (Abstract in rivista) (Prodotto della ricerca)
• EMQN Best Practice Guidelines for molecular genetic testing of SCAs (Articolo in rivista) (Prodotto della ricerca)
• Fine-scale human genetic structure in Western France. (Articolo in rivista) (Prodotto della ricerca)
• Effects of aging and sex difference on immune-related phenotypes. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Looking for CDKN1C enhancers (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Exome sequencing of an italian patient with dHMN (Abstract in rivista) (Prodotto della ricerca)
• A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia (Abstract in rivista) (Prodotto della ricerca)
• Three SNP aplotypes in neuroligins may correlate to autism susceptibility (Abstract/Poster in convegno) (Prodotto della ricerca)
• Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC (Abstract in rivista) (Prodotto della ricerca)
• Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort (Abstract/Poster in convegno) (Prodotto della ricerca)
• Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions. (Articolo in rivista) (Prodotto della ricerca)
• Brown-Vialetto-Van Laere syndrome: a case report of a family from Italy (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• \"Doubly heterozygous LMNA and TTN Mutations Revealed by Exome Sequencing in a Severe Form of Dilated Cardiomyopathy\". (Articolo in rivista) (Prodotto della ricerca)
• System and pathway analysis of variants associated with immune cell levels (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. (Articolo in rivista) (Prodotto della ricerca)

Alternative label

• Eur. j. hum. genet. (literal)

Language

• eng (literal)

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

• 1476-5438 (literal)

Preferred label

• European journal of human genetics (literal)

Publisher

• Nature Publishing Group. Basingstoke: GBR (literal)

Incoming links:

Rivista

• SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. (Articolo in rivista) (Prodotto della ricerca)
• Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions. (Articolo in rivista) (Prodotto della ricerca)
• System and pathway analysis of variants associated with immune cell levels (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
• \"Doubly heterozygous LMNA and TTN Mutations Revealed by Exome Sequencing in a Severe Form of Dilated Cardiomyopathy\". (Articolo in rivista) (Prodotto della ricerca)
• Effects of aging and sex difference on immune-related phenotypes. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
• Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Looking for CDKN1C enhancers (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC (Abstract in rivista) (Prodotto della ricerca)
• Brown-Vialetto-Van Laere syndrome: a case report of a family from Italy (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• EMQN Best Practice Guidelines for molecular genetic testing of SCAs (Articolo in rivista) (Prodotto della ricerca)
• Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis (Abstract in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1105)
• A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia (Abstract in rivista) (Prodotto della ricerca)
• Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort (Abstract/Poster in convegno) (Prodotto della ricerca)
• Exome sequencing of an italian patient with dHMN (Abstract in rivista) (Prodotto della ricerca)
• Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls (Abstract in rivista) (Prodotto della ricerca)
• Fine-scale human genetic structure in Western France. (Articolo in rivista) (Prodotto della ricerca)
• Three SNP aplotypes in neuroligins may correlate to autism susceptibility (Abstract/Poster in convegno) (Prodotto della ricerca)