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Pubblicazioni
CLINICAL GENETICS
Rivista
Codice:
E211576
ISSN:
1399-0004
Dati Generali
Dati Generali
Pubblicazioni (6)
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis
Articolo
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Articolo
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2
Articolo
Genetic and cellular basis of Cerebral Cavernous Malformations: implications for clinical management
Articolo
Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation.
Articolo
Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations
Articolo
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