-
Hypersuccinylacetonemia and normal liver function in maleylacetoacetate isomerase deficiency,
Posted on by BMJ in Uncategorized
-
Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing?,
Posted on by BMJ in Uncategorized
-
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study,
Posted on by BMJ in Uncategorized
-
The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update,
Posted on by BMJ in Uncategorized
-
The cerebellum and embodied semantics: Evidence from a case of genetic ataxia due to STUB1 mutations,
Posted on by BMJ in Uncategorized
-
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis,
Posted on by BMJ in Uncategorized
-
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism,
Posted on by BMJ in Uncategorized
-
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy,
Posted on by BMJ in Uncategorized
-
Impact of subsidies on cancer genetic testing uptake in Singapore,
Posted on by BMJ in Uncategorized
-
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene,
Posted on by BMJ in Uncategorized
