Associated Papers
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
Lal D et al.
Plos One, 2016
Selenoprotein N in skeletal muscle: from diseases to function.
Castets P et al.
Journal of Molecular Medicine (berlin, Germany), 2012
Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
Herasse M et al.
Journal of Neuropathology and Experimental Neurology, 2007
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
Okamoto Y et al.
Neurogenetics, 2006
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A et al.
American Journal of Human Genetics, 2002
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