Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Molecular Genetics and Metabolism Reports|May 9, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiencyDelia Apatean, Bojana Rakic, Catherine Brunel-Guitton, et al.
The Journal of Biological Chemistry|September 2, 2011
Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidisLeo Y-C Lin, Bojana Rakic, Cecilia P C Chiu, et al.
NPJ Genomic Medicine|September 29, 2025
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaineXiao Li, Mehdi Yeganeh, Graham Sinclair, et al.
Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
JCI Insight|December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle functionXiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.
The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.
Pageof 2