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Pediatric Neurology|October 8, 2017
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase DeficiencyRéjean M Guerriero, Archana A Patel, Brian Walsh, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|December 4, 2018
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformationsChunyun Fu, Shiyu Luo, Yue Zhang, et al.Clinical Drug Investigation|May 31, 2007
Pharmacokinetic evaluation of rofecoxib : comparison of tablet and suspension formulationsJules I Schwartz, Patrick J Larson, Arturo G Porras, et al.Molecular Genetics and Metabolism|December 28, 2017
Characterization of a novel variant in siblings with Asparagine Synthetase DeficiencyStephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, et al.Genes|April 28, 2023
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A VariantsMargaret A Hojlo, Merhawi Ghebrelul, Casie A Genetti, et al.Cold Spring Harbor Molecular Case Studies|March 17, 2017
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantSarah U Morton, Sanjay P Prabhu, Hart G W Lidov, et al.American Journal of Human Genetics|January 13, 2000
A cholesterol-lowering gene maps to chromosome 13qH Knoblauch, B Müller-Myhsok, A Busjahn, et al.Drug Metabolism and Disposition: the Biological Fate of Chemicals|January 16, 2003
Absorption, metabolism, and excretion of etoricoxib, a potent and selective cyclooxygenase-2 inhibitor, in healthy male volunteersA David Rodrigues, Rita A Halpin, Leslie A Geer, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|January 12, 2026
Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICUAlissa M D'Gama, Rachel S Hu, Maya C Del Rosario, et al.Human Molecular Genetics|February 24, 2018
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handlingVirginia Huntoon, Jeffrey J Widrick, Colline Sanchez, et al.Pageof 83