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The Journal of Molecular Diagnostics : JMD|August 25, 2024
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine MetabolismRosalie M Sterner, Patricia L Hall, Dietrich Matern, et al.
Molecular Genetics and Metabolism|March 29, 2026
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal resultsMatthew J Schultz, Kristen L Liedtke, Coleman T Turgeon, et al.
Molecular Genetics and Metabolism|April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenaseJ Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Clinical Chemistry|October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophyNoemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Molecular Genetics and Metabolism|May 3, 2005
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidationA Michele Schuler, Barbara A Gower, Dietrich Matern, et al.
Molecular Genetics and Metabolism|April 23, 2003
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spotsNarasimhan Nagan, Kent E Kruckeberg, Angela L Tauscher, et al.
Hormone Research in Paediatrics|August 28, 2010
Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasiaKyriakie Sarafoglou, John H Himes, Jean M Lacey, et al.
European Journal of Pediatrics|January 28, 2003
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcomeKarl Otfried Schwab, Regina Ensenauer, Dietrich Matern, et al.
Molecular Genetics and Metabolism|May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz SyndromePatricia Hall, Virginia Michels, Dimitar Gavrilov, et al.
Fertility and Sterility|July 8, 2014
Composition of commercial media used for human embryo cultureDean E Morbeck, Rebecca L Krisher, Jason R Herrick, et al.
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