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American Journal of Medical Genetics. Part A|July 22, 2004
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndromeDeborah L Cragun, Sharon K Trumpy, Cedric H L Shackleton, et al.Pediatrics|July 11, 2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathyCarlos E Prada, John L Jefferies, Michelle A Grenier, et al.Molecular Endocrinology (Baltimore, Md.)|November 3, 2007
Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defectJulia Halperin, Y Sangeeta Devi, Sangeeta Y Devi, et al.Anesthesia and Analgesia|May 15, 2019
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care AlgorithmAli I Kandil, Cindy S Pettit, Lisa N Berry, et al.Molecular Genetics and Metabolism|June 26, 2012
Recurrent pancreatitis in ornithine transcarbamylase deficiencyCarlos E Prada, Ajay Kaul, Robert J Hopkin, et al.Frontiers in Genetics|August 8, 2022
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical centerElizabeth K Baker, Elizabeth A Ulm, Alyce Belonis, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, et al.Journal of Neuromuscular Diseases|October 10, 2022
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant CohortTina Duong, Priya S Kishnani, Kristina An Haack, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screeningDerek Wong, Silvia Tortorelli, Lisa Bishop, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 12, 2021
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic ParaplegiaDerek E Neilson, Michael Zech, Robert B Hufnagel, et al.Pageof 3