jmg.bmj2 天
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication ...
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.bmj1 天
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.bmj2 天
Human Evolutionary Genetics: Origins, Peoples & Disease
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jmg.bmj4 天
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 ...
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF ...
Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...
jmg.bmj6 天
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual ...
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease associated with mitochondrial DNA (mtDNA) mutations. We describe the distribution of seven different mtDNA mutations and ...
jmg.bmj6 天
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities
Background This study explores the ethical and moral challenges faced by paediatric oncologists when they are informed of patient genomic results, particularly during molecular tumour boards (MTBs), ...