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Nature Cell Biology|August 17, 2010
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibitionAlessandro Luciani, Valeria Rachela Villella, Speranza Esposito, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
International Journal of Environmental Research and Public Health|May 28, 2022
Sponge Whirl-Pak Sampling Method and Droplet Digital RT-PCR Assay for Monitoring of SARS-CoV-2 on Surfaces in Public and Working EnvironmentsDavide Cardinale, Maria Tafuro, Andrea Mancusi, et al.
Human Gene Therapy|September 11, 2019
Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar SyndromeSem J Aronson, Philippe Veron, Fanny Collaud, et al.
BMC Bioinformatics|July 17, 2019
RAFTS3G: an efficient and versatile clustering software to analyses in large protein datasetsBruno Thiago de Lima Nichio, Aryel Marlus Repula de Oliveira, Camilla Reginatto de Pierri, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|July 25, 2007
Early interim 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography is prognostically superior to international prognostic score in advanced-stage Hodgkin's lymphoma: a report from a joint Italian-Danish studyAndrea Gallamini, Martin Hutchings, Luigi Rigacci, et al.
Molecular Genetics and Metabolism|February 5, 2018
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statementRebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, et al.
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