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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.European Journal of Neurology|May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational studyMarine Tardieu, Céline Cudejko, Aline Cano, et al.Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.Pageof 6