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British Journal of Haematology|November 25, 2003
Transcobalamin deficiency due to activation of an intra exonic cryptic splice siteFares Namour, Anne-Catherine Helfer, Edward V Quadros, et al.Biochimie|February 19, 2013
Molecular and cellular effects of vitamin B12 in brain, myocardium and liver through its role as co-factor of methionine synthaseJean-Louis Guéant, Maatem Caillerez-Fofou, Shyuefang Battaglia-Hsu, et al.Ebiomedicine|April 9, 2018
Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular CarcinomaAbderrahim Oussalah, Susann Rischer, Mouni Bensenane, et al.Journal of Medical Genetics|January 16, 2007
Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2)Jean-Louis Guéant, Nicodème W Chabi, Rosa-Maria Guéant-Rodriguez, et al.Orphanet Journal of Rare Diseases|December 16, 2015
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsivenessElise Jeannesson-Thivisol, François Feillet, Céline Chéry, et al.Ebiomedicine|January 11, 2020
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic studyAbderrahim Oussalah, Elise Jeannesson-Thivisol, Céline Chéry, et al.Science (New York, N.Y.)|August 6, 2021
A noncoding RNA modulator potentiates phenylalanine metabolism in miceYajuan Li, Zhi Tan, Yaohua Zhang, et al.American Journal of Human Genetics|July 16, 2020
The Genetic Landscape and Epidemiology of PhenylketonuriaAlicia Hillert, Yair Anikster, Amaya Belanger-Quintana, et al.Pageof 2