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Genes|September 28, 2024
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner SyndromeIghli di Bari, Caterina Ceccarini, Maria Curcetti, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
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.
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.
Clinical Epigenetics|January 7, 2021
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndromeL C Schenkel, E Aref-Eshghi, K Rooney, 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.
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