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CLINICAL GENETICS
Rivista
Codice:
E038223
ISSN:
0009-9163
Dati Generali
Dati Generali
Pubblicazioni (18)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
Articolo
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
Articolo
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology
Articolo
COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap
Articolo
Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families
Articolo
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
Articolo
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
Articolo
EPIDEMIOLOGY OF MYOTONIC DYSTROPHY IN ITALY: RE-APPRISAL AFTER GENETIC DIAGNOSIS.
Articolo
GENOTYPING OF SPINAL MUSCULAR ATROPHY FAMILIES WITH LINKED DNA PROBES.
Articolo
Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.
Articolo
Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype
Articolo
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
Articolo
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction
Articolo
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
Articolo
Oto-Palato-Digital syndrome in four generations of a large family.
Articolo
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B
Articolo
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients
Articolo
The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases
Articolo
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