jmg.bmj5d
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
6 Medical Genetics Section, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University Hospital Consortium Corporation Polyclinics of Bari, Bari, Italy 7 Department of ...
jmg.bmj3d
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
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 ...
jmg.bmj4d
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
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...