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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 ...
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...
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), ...
Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
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 ...
Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...
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