selected scholarly activity
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academic article
- Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease.. Molecular Genetics and Metabolism Reports. 6:13-15. 2016
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?. Pediatric Neurology. 53:535-540. 2015
- Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg).. Biochemical Genetics. 52:225-232. 2014
- Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.. American Journal of Human Genetics. 92:632-636. 2013
- Potential teratogenic effects of allopurinol: a case report.. American Journal of Medical Genetics American Journal of Medical Genetics, Part A. 155A:2247-2252. 2011
- Genetic implications and health consequences following the Chernobyl nuclear accident.. Clinical Genetics. 77:221-226. 2010
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conference paper
- Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening. Molecular Genetics and Metabolism. 336-337. 2012