Výsledky vyhledávání - Alessandra Renieri
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The role of surgical lung biopsy in the management of interstitial lung disease: experience from a single institution in the UK Autor Vivienne Blackhall, Mohammed Asif, Alessandra Renieri, Serenella Civitelli, Alan Kirk, Ali N.A. Jilaihawi, Felice Granato
Vydáno 2013Artigo -
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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication Autor Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Joussef Hayek, Raffaele Rocchi, Michele Zappella, Alessandra Renieri
Vydáno 2004Artigo -
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A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males Autor Ilaria Meloni, Mirella Bruttini, Ilaria Longo, Francesca Mari, Flavio Rizzolio, Patrizia D’Adamo, Koenraad Denvriendt, Jean‐Pierre Fryns, Daniela Toniolo, Alessandra Renieri
Vydáno 2000Artigo -
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FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation Autor Monica Piccini, Francesca Vitelli, Mirella Bruttini, Barbara R. Pober, Jón J. Jónsson, Marcello Villanova, Massimo Zollo, Giuseppe Borsani, Andrea Ballabio, Alessandra Renieri
Vydáno 1998Artigo -
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant Autor A. Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello
Vydáno 2017Revisão -
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VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases Autor Antonio Vitale, Valeria Caggiano, Antonio Bimonte, Federico Caroni, Gian Marco Tosi, Alessandra Fabbiani, Alessandra Renieri, Monica Bocchia, Bruno Frediani, Claudia Fabiani, Luca Cantarini
Vydáno 2023Revisão -
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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene Autor Chiara Pescucci, Francesca Mari, Ilaria Longo, Paraskevi Vogiatzi, Rossella Caselli, Elisa Scala, Cataldo Abaterusso, R Gusmano, Marco Seri, Nunzia Miglietti, Elena Bresin, Alessandra Renieri
Vydáno 2004Artigo -
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Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases Autor Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, C. Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Bricarelli
Vydáno 2013Artigo -
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Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group Autor Clifford E. Kashtan, Jie Ding, Guido Garosi, Laurence Heidet, Laura Massella, Koichi Nakanishi, Kandai Nozu, Alessandra Renieri, Michelle N. Rheault, Fang Wang, Oliver Groß
Vydáno 2018Artigo -
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Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women Autor Maria Monticelli, Bruno Hay Mele, Elisa Benetti, Chiara Fallerini, Margherita Baldassarri, Simone Furini, Elisa Frullanti, Francesca Mari, Giuseppina Andreotti, Maria Vittoria Cubellis, Alessandra Renieri
Vydáno 2021Artigo -
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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases Autor Carla Gaggiano, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Alessandra Fabbiani, Giovanna Capozio, Chiara Marzo, Viviana Gelardi, Salvatore Grosso, Bruno Frediani, Alessandra Renieri, Luca Cantarini
Vydáno 2019Revisão -
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Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice Autor Tommaso Patriarchi, Sonia Amabile, Elisa Frullanti, Elisa Landucci, Caterina Lo Rizzo, Francesca Ariani, Mario Costa, Francesco Olimpico, Johannes Hell, Flora M. Vaccarino, Alessandra Renieri, Ilaria Meloni
Vydáno 2015Artigo -
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iPS cells to model CDKL5-related disorders Autor Mariangela Amenduni, Roberta De Filippis, Aaron Cheung, Vittoria Disciglio, Maria Carmela Epistolato, Francesca Ariani, Francesca Mari, Maria Antonietta Mencarelli, Joussef Hayek, Alessandra Renieri, James Ellis, Ilaria Meloni
Vydáno 2011Artigo -
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Advances in Alport syndrome diagnosis using next-generation sequencing Autor Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi, Guido Garosi, Laura Massella, Maria Carmela Epistolato, Roberta Mancini, Francesca Mari, Ilaria Longo, Francesca Ariani, Alessandra Renieri, Mirella Bruttini
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Phenotype
Internal medicine
Disease
Mutation
Kidney
Pathology
Alport syndrome
Glomerulonephritis
Bioinformatics
Rett syndrome
Psychiatry
Exome sequencing
MECP2
Neuroscience
Psychology
Computational biology
Environmental health
Genotype
Missense mutation
Autism
Pediatrics
Population
Computer science
Intellectual disability
Cohort
Coronavirus disease 2019 (COVID-19)