publication venue for
- Large contiguous gene deletions in Sjögren-Larsson syndrome. 2011
- Mitochondrial disease manifestations in relation to transcriptome location and function.. 135. 2021
- Arginase overexpression in neurons and its effect on traumatic brain injury.. 125. 2018
- Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.. 110. 2013
- Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.. 110. 2013
- Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.. 110. 2013
- Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.. 105. 2011
- Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.. 89. 2006
- Vesicle-associated membrane protein 4, a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish.. 85. 2005
- The silent T1317C mutation of methylenetetrahydrofolate reductase should not interfere with MboII restriction isotyping of the reported A1298C mutation. 68. 1999
- A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.. 64. 1998
- Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.. 94. 2008
- Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. 2019
- Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. 2010