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International Journal of Molecular Sciences|April 30, 2021
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic ReviewCarlotta Spagnoli, Carlo Fusco, Antonio Percesepe, et al.
Journal of Inherited Metabolic Disease|March 31, 2016
Erythrocyte-mediated delivery of recombinant enzymesVincenzo Leuzzi, Luigia Rossi, Claudia Gabucci, et al.
Molecular Genetics and Metabolism|June 19, 2019
Clinical characterization of tremor in patients with phenylketonuriaFrancesca Nardecchia, Filippo Manti, Sabrina De Leo, et al.
Analytical Biochemistry|February 9, 2008
Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblastsVincenzo Leuzzi, Maria G Alessandrì, Manuela Casarano, et al.
Molecular Genetics and Metabolism|May 7, 2023
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic reviewAgnese De Giorgi, Francesca Nardecchia, Filippo Manti, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndromeMarcella Zollino, Fiorella Gurrieri, Daniela Orteschi, et al.
Neurology. Genetics|March 31, 2018
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signatureVincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 9, 2004
Sleep polygraphy in Angelman syndromeSilvia Miano, Oliviero Bruni, Vincenzo Leuzzi, et al.
Advances in Therapy|February 26, 2013
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiencyRoberto Cerone, Generoso Andria, Marcello Giovannini, et al.
Molecular Genetics and Metabolism|December 15, 2015
Psychiatric disorders in adolescent and young adult patients with phenylketonuriaFilippo Manti, Francesca Nardecchia, Flavia Chiarotti, et al.
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