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ORPHANET JOURNAL OF RARE DISEASES
Rivista
Codice:
E191009
ISSN:
1750-1172
Dati Generali
Dati Generali
Pubblicazioni (30)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.
Articolo
COG5-CDG: expanding the clinical spectrum
Articolo
Characterization and classification of Rare Disease Registries by using exploratory data analyses.
Abstract
Chromatin dynamics and in vitro biomarkers in laminopathies: an overview
Abstract
Chromatin dynamics and in vitro biomarkers in laminopathies: an overview
Articolo
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Articolo
Congenital disorders of glycosylation: narration of a story through its patents
Articolo
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset
Articolo
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
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Articolo
Drug repositioning can accelerate discovery of pharmacological chaperones
Articolo
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
Articolo
European lipodystrophy registry: Background and structure
Articolo
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study
Articolo
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Articolo
Glycogen storage diseasetype Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation
Articolo
Holt Oram syndrome: a registry-based study in Europe
Articolo
Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva
Articolo
Incontinentia pigmenti: report on data from 2000 to 2013
Articolo
Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study
Articolo
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Articolo
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
Abstract
Rett syndrome: a wide clinical and autonomic picture
Articolo
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
Articolo
Survival of children with rare structural congenital anomalies: a multi-registry cohort study
Articolo
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
Articolo
The empowerment of translational research: lessons from laminopathies.
Articolo
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
Articolo
Xeroderma pigmentosum
Articolo
eHealth for Patients with Rare Diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)
Articolo
No Results Found
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