MAURI, ALESSIA

MAURI, ALESSIA  

Dipartimento di Scienze Biomediche e Cliniche  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Role of epigenetics and alterations in RNA metabolism in leukodystrophies 2024 Rey, FedericaEsposito, LetiziaMauri, AlessiaBerardo, ClarissaTonduti, Davide + Article (author) -
Further insights into Allan-Herndon-Dudley syndrome: a novel SLC16A2 splice site variant 2024 Esposito L.Mauri A.Rey F.Castellotti B.Zuccotti G.Tonduti D.Carelli S. + Conference Object -
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots 2024 Mauri, AlessiaBerardo, ClarissaBiganzoli, DavideBenedetti, SaraRey, FedericaZuccotti, Gian Vincenzo + Article (author) -
Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome 2024 Freddi, AnnaPrevitali, RobertoMauri, AlessiaDe Amicis, RamonaBertoli, SimonaDoneda, ChiaraVeggiotti, Pierangelo + Article (author) -
Novel frontiers in aicardi-goutières syndrome: association between a rnu7-1 variant and histone dysfunctions 2024 Federica ReyLetizia EspositoAlessia MauriSerena MazzucchelliGianvincenzo ZuccottiDavide Tonduti + Conference Object -
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing 2024 Moresco, GiadaVenturin, MarcoMauri, AlessiaPicciolini, OdoardoMessina, LauraTriulzi, FabioMiozzo, Monica RosaRondinone, OrnellaFontana, Laura + Article (author) -
Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study 2023 Berardo, ClarissaMauri, AlessiaRey, FedericaPelizzo, GloriaZuccotti, Gianvincenzo + Article (author) -
Redox Imbalance in Neurological Disorders in Adults and Children 2023 Rey, FedericaBerardo, ClarissaMauri, AlessiaEsposito, LetiziaOttolenghi, SaraZuccotti, GianvincenzoTonduti, DavideEsposito, Emanuela + Article (author) -
Menkes disease complicated by concurrent ACY1 deficiency: A case report 2023 Mauri, AlessiaVeggiotti, Pierangelo + Article (author) -
Unraveling the genetic causes of Moebius syndrome 2022 G. MorescoO. RondinoneL. FontanaA. MauriM. VenturinO. PiccioliniR. VillaM. Miozzo + Article (author) -
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis 2022 Alessia MauriAlessandra DuseRoberto PrevitaliSara BenedettiPierangelo Veggiotti + Article (author) -
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology 2022 Moresco, GiadaRondinone, OrnellaMauri, AlessiaColapietro, PatriziaMarfia, GiovanniGrilli, FedericoRinaldi, BerardoPrada, ElisabettaMiozzo, Monica RosaMilani, DonatellaFontana, Laura + Article (author) -