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 ...

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 ...

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Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...

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 ...