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Journal of Inherited Metabolic Disease|March 28, 2002
Outcome of tyrosinaemia type IIIC J Ellaway, E Holme, S Standing, et al.Nature Genetics|January 23, 1999
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expressionJ Wang, H Wilhelmsson, C Graff, et al.Human Molecular Genetics|March 4, 2000
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patientsG V Börner, M Zeviani, V Tiranti, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia IS Z Kim, K G Kupke, L Ierardi-Curto, et al.Genes and Immunity|March 24, 2017
The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene-environment interactionI L Bomfim, F Lamb, K Fink, et al.Neuromuscular Disorders : NMD|October 21, 2006
Deficiency of mitochondrial ATP synthase of nuclear genetic originW Sperl, P Jesina, J Zeman, et al.Journal of Inherited Metabolic Disease|January 31, 2015
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatmentP Burda, A Kuster, O Hjalmarson, et al.Scientific Reports|December 22, 2017
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in DuchenneA Lourbakos, N Yau, P de Bruijn, et al.Nucleic Acids Research|September 26, 2025
MITE: the Minimum Information about a Tailoring Enzyme database for capturing specialized metabolite biosynthesisAdriano Rutz, Daniel Probst, César Aguilar, et al.Nucleic Acids Research|December 10, 2024
MIBiG 4.0: advancing biosynthetic gene cluster curation through global collaborationMitja M Zdouc, Kai Blin, Nico L L Louwen, et al.Pageof 22