Skip to Main Content (Press Enter)
×
Home
Degrees
Courses
Jobs
People
Outputs
Organizations
Third Mission
Expertise & Skills
IT
EN
☰
|
UNIFIND
uniss.it
IT
EN
×
Home
Degrees
Courses
Jobs
People
Outputs
Organizations
Third Mission
Expertise & Skills
☰
Outputs
CLINICAL GENETICS
Journal
Identifier:
E038223
ISSN:
0009-9163
Overview
Overview
Outputs (5)
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder
Academic Article
Exome sequencing in Crisponi/cold-induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
Academic Article
NOVEL MUTATIONS OF THE CLCN5 GENE INCLUDING A COMPLEX ALLELE AND A 5' UTR MUTATION IN DENT DISEASE
Academic Article
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
Academic Article
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)
Academic Article
No Results Found
