Orphanet journal of rare diseases

Label

• Orphanet journal of rare diseases (literal)

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

• Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study (Articolo in rivista) (Prodotto della ricerca)
• Xeroderma pigmentosum (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva (Articolo in rivista) (Prodotto della ricerca)
• Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The empowerment of translational research: lessons from laminopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)
• COG5-CDG: expanding the clinical spectrum (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Incontinentia pigmenti: report on data from 2000 to 2013 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

• OJRD (literal)
• Orphanet J. rare dis. (literal)
• Orphanet journal of rare diseases (literal)

Language

• eng (literal)

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

• 1750-1172 (literal)

Preferred label

• Orphanet journal of rare diseases (literal)

Publisher

• BioMed Central, [London] : GBR (literal)

Incoming links:

Rivista

• Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Xeroderma pigmentosum (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• The empowerment of translational research: lessons from laminopathies. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study (Articolo in rivista) (Prodotto della ricerca)
• Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• COG5-CDG: expanding the clinical spectrum (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva (Articolo in rivista) (Prodotto della ricerca)
• Incontinentia pigmenti: report on data from 2000 to 2013 (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases (Abstract/Comunicazione in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1106)