Showing results (181-190 of 197) with videos related to
Sort By:
Pageof 20
Genes|October 31, 2018
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Orphanet Journal of Rare Diseases|November 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithmMarco Spada, Serena Gasperini, Massimiliano Filosto, et al.Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.Pageof 20