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Journal of Translational Genetics and Genomics|July 1, 2020
The North American mitochondrial disease registryXiomara Q Rosales, John L P Thompson, Richard Haas, et al.Neuromuscular Disorders : NMD|February 5, 2014
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutationsStephanie E Wallace, Jessie H Conta, Thomas L Winder, et al.Molecular Genetics & Genomic Medicine|June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndromeJennifer Friedman, Lynne M Bird, Richard Haas, et al.Biochimica Et Biophysica Acta|April 28, 2012
Mitochondrial and ion channel gene alterations in autismMoyra Smith, Pamela L Flodman, John J Gargus, et al.The Plant Cell|October 21, 2010
Nonflowering plants possess a unique folate-dependent phenylalanine hydroxylase that is localized in chloroplastsAnne Pribat, Alexandre Noiriel, Alison M Morse, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|September 15, 2020
Does the first hour of continuous electroencephalography predict neonatal seizures?Emma Macdonald-Laurs, Cynthia Sharpe, Mark Nespeca, et al.Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society|August 19, 2020
Optical Flow Estimation Improves Automated Seizure Detection in Neonatal EEGJoel R Martin, Paolo G Gabriel, Jeffrey J Gold, et al.Plos One|July 30, 2013
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkZhe Zhang, Mai Tsukikawa, Min Peng, et al.Parkinsonism & Related Disorders|October 18, 2019
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature reviewSerena Galosi, Emanuele Barca, Rosalba Carrozzo, et al.Human Genetics|August 22, 2002
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemiaStéphanie Gobin, Jean-Paul Bonnefont, Carina Prip-Buus, et al.Pageof 5