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ORPHANET JOURNAL OF RARE DISEASES
Rivista
Codice:
E191009
ISSN:
1750-1172
Dati Generali
Dati Generali
Pubblicazioni (23)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
Arterial tortuosity syndrome in two Italian paediatric patients.
Articolo
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome
Articolo
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: Neuroimaging and clinical findings
Articolo
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Articolo
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
Articolo
Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria (Orphanet Journal of Rare Diseases, (2022), 17, 1, (443), 10.1186/s13023-022-02488-2)
Articolo
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Articolo
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell–Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report
Articolo
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Articolo
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization
Articolo
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Articolo
Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria
Articolo
Genotype-phenotype correlation in Pompe disease, a step forward
Articolo
Identification and characterisation of eight novel SERPINA1 null mutations.
Articolo
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
Articolo
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm
Articolo
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Articolo
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: Results of NMR metabolomics investigation
Articolo
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Articolo
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients
Articolo
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey
Articolo
Proteus syndrome: evaluation of the immunological profile
Articolo
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians’ point of view: the results of an Italian survey
Articolo
No Results Found
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