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Tipologia Anno Titolo Titolo inglese Autore File
Scuole di Specializzazione 2022 ANALISI DEL PROFILO GENETICO DI PAZIENTI CON MALATTIA TROMBOTICA ED EMORRAGICA GENETIC PROFILING OF PATIENTS WITH THROMBOTIC AND HEMORRHAGIC DISEASE GIANESELLO, LISA
Scuole di Specializzazione 2022 Follow-up post natale in pazienti con riscontro prenatale di translucenza nucale aumentata Postnatal follow-up in patients with prenatal detection of increased nuchal translucency BUSCIGLIO, ANNA
Scuole di Specializzazione 2022 IDENTIFICAZIONE DI COPY NUMBER VARIANTS (CNVs) MEDIANTE ANALISI BIOINFORMATICA DI DATI GENERATI CON WHOLE EXOME SEQUENCING (WES): STUDIO DI UNA COORTE DI PAZIENTI AFFETTI DA EPILESSIA Identification of Copy Number Variants (CNVs) through bioinformatic analysis of Whole Exome Sequencing (WES) data: a study on a cohort of patients with epilepsy. GASPARI, TOMMASO FRANCESCO
Lauree magistrali 2021 Immunocellular expression of energy metabolism relevant genes in individuals exposed to childhood maltreatment Immunocellular expression of energy metabolism relevant genes in individuals exposed to childhood maltreatment KRISTJANSDOTTIR, JOSEPHINE LISA
Lauree magistrali 2024 Long-read sequencing approaches to unravel the complex architecture of RFC1 repeat expansion associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) Long-read sequencing approaches to unravel the complex architecture of RFC1 repeat expansion associated with Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome (CANVAS) MENINI, IRIS
Lauree magistrali a ciclo unico 2024 Mutational spectrum of the SLC12A3 gene in a cohort of patients with Gitelman syndrome in north-eastern Italy Mutational spectrum of the SLC12A3 gene in a cohort of patients with Gitelman syndrome in north-eastern Italy MERLI, JACOPO NICOLÒ
Scuole di Specializzazione 2023 Resa diagnostica WES (Whole Exome Sequencing) in casi di malformazioni congenite fetali multiple o maggiori: studio di coorte monocentrico retrospettivo. Diagnostic yield of WES (Whole Exome Sequencing) in cases of multiple or major foetal congenital malformations: a single-centre retrospective cohort study.  PASSAGLIA, LISA
Lauree magistrali 2023 Studio del ruolo di HPDL nel metabolismo del Coenzima Q in C. elegans Study of the role of HPDL in Coenzyme Q metabolism in C. elegans IACONISI, DESIREE
Lauree magistrali 2022 The role of COQ8A and COQ8B proteins in mitochondrial function The role of COQ8A and COQ8B proteins in mitochondrial function DALLA FONTANA, SARAH
Lauree magistrali 2020 Unravelling the role of polyprenyl diphosphate synthase in coenzyme Q biosynthesis Unravelling the role of polyprenyl diphosphate synthase in coenzyme Q biosynthesis SCATTOLIN, ALESSIA
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