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Frontiers in Endocrinology|March 31, 2023
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières SyndromeFrancesca Dragoni, Jessica Garau, Simona Orcesi, et al.Frontiers in Neuroscience|February 24, 2022
Cortical Thickness and Clinical Findings in Prescholar Children With Autism Spectrum DisorderSimona Lucibello, Giovanna Bertè, Tommaso Verdolotti, et al.Human Mutation|April 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndromeDaniele Galatolo, Molly E Kuo, Patrick Mullen, et al.Behavioural Neurology|September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi ConsensusCarlotta Spagnoli, Roberta Battini, Filippo Manti, et al.Genes|February 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in <i>PACS1</i>: An Italian Cohort StudyStefano Pagano, Diego Lopergolo, Alessandro De Falco, et al.BMC Neurology|July 22, 2018
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndromePaolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, et al.Journal of Pediatric Genetics|December 1, 2021
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental DisordersRoberta Milone, Claudia Cesario, Marina Goldoni, et al.International Journal of Molecular Sciences|December 9, 2023
Novel <i>COX11</i> Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and <i>Saccharomyces cerevisiae</i>Chenelle A Caron-Godon, Stefania Della Vecchia, Alessandro Romano, et al.NMR in Biomedicine|February 23, 2024
Magnetic resonance fingerprinting-based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophiesMarta Lancione, Matteo Cencini, Elena Scaffei, et al.Neurology|January 24, 2020
Age and sex prevalence estimate of Joubert syndrome in ItalySara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, et al.Pageof 23