Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescenc
High-mobility group box 1 restores cardiac function after myocardial infarction in transgenic mic
Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattl
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide o
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient...
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutatio
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcificatio
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1...
The potential of multivariate quality control as a diagnostic tool in geoanalysi
Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clin...
Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 2
A repeat complex in the mitochondrial control region of Adelie penguins from Antarctic
Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell lin
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively...
Diagnostic accuracy of ten second-generation (human) tissue transglutaminase antibody assays in cel...
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/...
High-mobility group box 1 restores cardiac function after myocardial infarction in transgenic mic
Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattl
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide o
Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient...
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutatio
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcificatio
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1...
The potential of multivariate quality control as a diagnostic tool in geoanalysi
Quantitative DNA methylation analyses reveal stage dependent DNA methylation and association to clin...
Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 2
A repeat complex in the mitochondrial control region of Adelie penguins from Antarctic
Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell lin
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively...
Diagnostic accuracy of ten second-generation (human) tissue transglutaminase antibody assays in cel...
X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/...
High-mobility group box 1 restores cardiac function after myocardial infarction in transgenic mic
Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattl
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide o