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Coughlin CR
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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
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