Show
Sort by
-
- Journal Article
- A1
- open access
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve
-
- Journal Article
- A1
- open access
Notes on register variation and subject ellipsis in coordination
-
- Journal Article
- A1
- open access
Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle
-
- Journal Article
- A1
- open access
A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat
-
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
-
- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
-
- Journal Article
- A1
- open access
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
-
IGF1 haploinsufficiency in children with short stature : a case series
-
- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease
-
- Journal Article
- A1
- open access
The broad phenotypic spectrum of 17 alpha-hydroxylase/17,20-Iyase (CYP17A1) deficiency : a case series