Show
Sort by
-
- Journal Article
- A1
- open access
Clinical implementation of gene panel testing for lysosomal storage diseases
-
- Journal Article
- A1
- open access
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
-
Array comparative genomic hybridization in male infertility
-
Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
-
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
-
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
-
MITOCHONDRIAL ABNORMALITIES IN A NEWBORN WITH LACTIC ACIDOSIS AND ADRENAL CALCIFICATIONS
-
Role of BN-page in the diagnosis of mitochondrial DNA depletion
-
Do we need to search for gr/gr deletions in infertile men in a clinical setting?
-
Immunostaining technniques in patients with mtDNA depletion