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Italian Journal of Pediatrics|September 15, 2020
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases networkMarco Salvatore, Agata Polizzi, Maria Chiara De Stefano, et al.Genes|January 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic HubsRita Selvatici, Valentina Guida, Massimo Maffei, et al.BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.European Journal of Medical Genetics|March 22, 2023
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseasesMarianna Farnè, Fernanda Fortunato, Marcella Neri, et al.BMC Medical Genetics|August 17, 2012
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotypeSimona Brioschi, Francesca Gualandi, Chiara Scotton, et al.Plos One|October 3, 2018
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell culturesMonika Hiller, Maria Sofia Falzarano, Iker Garcia-Jimenez, et al.Human Mutation|May 26, 2017
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxiaAlessia Nasca, Chiara Scotton, Irina Zaharieva, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.Open Heart|April 21, 2022
Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathyMaddalena Graziosi, Raffaello Ditaranto, Claudio Rapezzi, et al.Journal of Molecular and Cellular Cardiology|June 15, 2020
POPDC2 a novel susceptibility gene for conduction disordersSusanne Rinné, Beatriz Ortiz-Bonnin, Birgit Stallmeyer, et al.Pageof 19