jmg.bmj3d
Pathology update to the Manchester Scoring System based on testing in over 4000 families
Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...
jmg.bmj6d
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).
We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was ...
jmg.bmj3d
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
2 Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA 3 Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA 8 ...
jmg.bmj6d
Human Evolutionary Genetics: Origins, Peoples & Disease
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
jmg.bmj5d
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
2 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening ...