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ELSEA, SARAH
One or more keywords matched the following items that are connected to ELSEA, SARAH
Item TypeName
Academic Article Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Academic Article Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Academic Article Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Academic Article Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Academic Article LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Academic Article Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.
Concept Exome
Academic Article Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Academic Article Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Academic Article Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
Academic Article Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays.
Academic Article Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification.
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