Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Epilepsia|January 9, 2009
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patientsCraig L Bennett, Yingzhang Chen, Sihoun Hahn, et al.
Mechanisms of Ageing and Development|July 13, 2011
The role of DMQ(9) in the long-lived mutant clk-1Yu-Ying Yang, Valeria Vasta, Sihoun Hahn, et al.
Molecular Genetics and Metabolism|May 25, 2011
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysisGuo-li Wang, Jing Wang, Ganka Douglas, et al.
JHEP Reports : Innovation in Hepatology|April 18, 2026
Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testingDorte L Lildballe, Anne Grosen, Peter Ott, et al.
JPEN. Journal of Parenteral and Enteral Nutrition|October 21, 2020
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation DisordersMarie K Norris, Anna I Scott, Sarah Sullivan, et al.
American Journal of Human Genetics|October 16, 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screeningRegina Ensenauer, Jerry Vockley, Jan-Marie Willard, et al.
Epilepsia|February 7, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephalyAlex R Paciorkowski, Sharon S McDaniel, Laura A Jansen, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Pageof 1