Journal of medical genetics

Label

• Journal of medical genetics (literal)

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

• DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. (Articolo in rivista) (Prodotto della ricerca)
• FOXN1 mutation abrogates prenatal T-cell development in humans (Articolo in rivista) (Prodotto della ricerca)
• Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 21-hydroxylase deficiency in Italy: a distinct pattern of CYP21 mutations in a sample from southern Italy (Articolo in rivista) (Prodotto della ricerca)
• Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. (Articolo in rivista) (Prodotto della ricerca)
• Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Characterization of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families (Articolo in rivista) (Prodotto della ricerca)
• A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

• Journal of medical genetics. (literal)
• J. med. genet. (literal)
• JMG (literal)

Language

• eng (literal)

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

• 0022-2593 (literal)

Preferred label

• Journal of medical genetics (literal)

Publisher

• British Medical Association, London : GBR (literal)

Incoming links:

Rivista

• Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy, (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• FOXN1 mutation abrogates prenatal T-cell development in humans (Articolo in rivista) (Prodotto della ricerca)
• DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich's ataxia patients. (Articolo in rivista) (Prodotto della ricerca)
• Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families (Articolo in rivista) (Prodotto della ricerca)
• Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. (Articolo in rivista) (Prodotto della ricerca)
• Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. (Articolo in rivista) (Prodotto della ricerca)
• Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• 21-hydroxylase deficiency in Italy: a distinct pattern of CYP21 mutations in a sample from southern Italy (Articolo in rivista) (Prodotto della ricerca)
• Characterization of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)