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ORPHANET JOURNAL OF RARE DISEASES
Rivista
Codice:
E191009
ISSN:
1750-1172
Dati Generali
Dati Generali
Pubblicazioni (21)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
Articolo
Are we ready? What is missing and what is needed? A regulator's perspective
Articolo
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
Articolo
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives
Articolo
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Articolo
Current challenges in the management of patients with sickle cell disease - A report of the Italian experience
Articolo
Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset
Articolo
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study
Articolo
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease
Articolo
Genetic testing in diffuse parenchymal lung disease
Articolo
Genome-wide association for sarcoidosis identifies novel risk loci and genetic heritability in African and European ancestries: a meta-analysis from the Finngen, Million Veteran Program, UK Biobank, and Biobank Japan datasets.
Articolo
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome
Articolo
Managed entry agreements
Articolo
Mixed cryoglobulinemia.
Articolo
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
Articolo
Mowat-Wilson syndrome: growth charts
Articolo
Parkinson's disease in Gaucher disease patients: What's changing in the counseling and management of patients and their relatives?
Articolo
RARE-Bestpractices: A platform for sharing best practices for the management of rare diseases
Articolo
Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus
Articolo
The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease
Articolo
The empowerment of translational research: lessons from laminopathies
Articolo
No Results Found
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