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 ...

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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Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth ...

1 Academic Unit of Medical Genetics, St Mary’s Hospital, University of Manchester, Manchester, UK 2 Centre for Molecular Medicine, Faculty of Medical and Human Sciences, University of Manchester, ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

The Hospital for Children and Adolescents, Biomedicum Helsinki, University of Helsinki, 00029 HYKS, Finland Correspondence to: Dr M Lipsanen-Nyman The Hospital for Children and Adolescents, University ...

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...

Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...

10 Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK Correspondence to Dr Beatriz Martinez-Delgado, Human Genetics Group, Spanish National Cancer Research Centre ...

6 Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA 7 Interdisciplinary Pediatric Center for Children ...