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Keywords: Molecular basis of disease
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Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (3-4): 163–169.
Published Online: 18 March 2014
..., instructions or products referred to in the content or advertisements. Apoptosis ATP Coenzyme Q 10 deficiency Mitochondria Mitophagy Molecular basis of disease mtDNA Oxidative stress Ubiquinone National Institutes of Health (NIH) 10.13039/100000002 The first clinical report...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2012) 2 (3-5): 153–163.
Published Online: 29 April 2011
.... Chromosome 14 Clinical features Congenital variant Encephalopathy FOXG1 Human Microcephaly Molecular basis of disease Mouse Rett syndrome In 2005, Shoichet et al. reported a 7-year-old girl exhibiting severe cognitive disability associated with a significant asymmetrical enlargement...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2010) 1 (1): 2–26.
Published Online: 15 January 2010
... characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. Cardiofaciocutaneous syndrome Costello syndrome Genotype-phenotype correlations LEOPARD syndrome Molecular basis of disease Molecular epidemiology Mutation analysis...