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CLINICAL GENETICS
Rivista
Codice:
E038223
ISSN:
0009-9163
Dati Generali
Dati Generali
Pubblicazioni (5)
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder
Articolo
Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
Articolo
NOVEL MUTATIONS OF THE CLCN5 GENE INCLUDING A COMPLEX ALLELE AND A 5' UTR MUTATION IN DENT DISEASE
Articolo
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
Articolo
Pseudominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL Olbia)
Articolo
No Results Found
