Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development
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Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development
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Author : Dalila De Vita
language : en
Publisher: Firenze University Press
Release Date : 2022
Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development written by Dalila De Vita and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Medical categories.
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development
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Author : Dalila De Vita
language : en
Publisher:
Release Date : 2021
Functional Validation Of Genetic Variants Identified By Next Generation Sequencing In Malformations Of Cortical Development written by Dalila De Vita and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with categories.
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.
Santa Maria Degli Angeli Un Monastero Camaldolese Dimenticato Nel Centro Di Firenze
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Author : Chiara Ricci
language : it
Publisher: Firenze University Press
Release Date :
Santa Maria Degli Angeli Un Monastero Camaldolese Dimenticato Nel Centro Di Firenze written by Chiara Ricci and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on with Architecture categories.
Il tema di questa pubblicazione è il monastero camaldolese di Santa Maria degli Angeli, situato nel centro storico di Firenze, in un’area compresa tra via degli Alfani, via del Castellaccio e piazza Brunelleschi. Lo studio del complesso religioso, fondato nel 1295, è stato affrontato con il duplice scopo di ricostruirne le vicende storico-architettoniche degli ultimi quattro secoli e individuare le ragioni del frazionamento successivo alla sua soppressione del 1866. Dalla divisione tra diverse proprietà è derivata l’attuale perdita di leggibilità architettonica del cenobio camaldolese, al punto da rendere quasi “dimenticato” non solo dai cittadini, ma anche da parte della storiografia, uno dei centri religiosi e culturali più importanti del Tre-Quattrocento fiorentino.
Legalit E Mutamenti Giurisprudenziali Nel Diritto Penale
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Author : Andrea Galante
language : it
Publisher: Firenze University Press
Release Date : 2021
Legalit E Mutamenti Giurisprudenziali Nel Diritto Penale written by Andrea Galante and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021 with Law categories.
Se il legislatore volesse incriminare nuove condotte o aggravare il trattamento sanzionatorio previsto per tipologie di condotte già penalmente rilevanti, lo potrebbe fare solo con efficacia per il futuro in virtù del divieto costituzionale di retroattività. Qualora un comportamento penalmente irrilevante al momento della sua commissione diventi, al contrario, penalmente rilevante a seguito del verificarsi di un cambio di interpretazione giurisprudenziale oppure finisca per essere sanzionato in astratto con pene più sfavorevoli, quali garanzie sono riconosciute al cittadino? Il lavoro affronta, in prospettiva anche europea e comparata, il tema delle garanzie costituzionali riconosciute al singolo a fronte del verificarsi di un mutamento giurisprudenziale produttivo di conseguenze sfavorevoli.
Isotopic Fractionation Study Towards Massive Star Forming Regions Across The Galaxy
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Author : Laura Colzi
language : en
Publisher: Firenze University Press
Release Date : 2022
Isotopic Fractionation Study Towards Massive Star Forming Regions Across The Galaxy written by Laura Colzi and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Science categories.
One of the most important tools to investigate the chemical history of our Galaxy and our own Solar System is to measure the isotopic fractionation of chemical elements. In the present study new astronomical observations devoted to the study of hydrogen and nitrogen fractionation (D/H and 14N/15N ratios) of molecules, towards massive star-forming regions in different evolutionary phases, have been presented. Moreover, a new detailed theoretical study of carbon fractionation, 12C/13C ratios, has been done. One of the main results was the confirmation that the 14N/15N ratio increases with the galactocentric distance, as predicted by stellar nucleosynthesis Galactic chemical evolution models. This work gives new important inputs on the understanding of local chemical processes that favor the production of molecules with different isotopes in star-forming regions.
Tectono Metamorphic Evolution Of The Continental Units Along The Edge Between Alpine And Hercynian Corsica
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Author : Maria Di Rosa
language : en
Publisher: Firenze University Press
Release Date : 2022
Tectono Metamorphic Evolution Of The Continental Units Along The Edge Between Alpine And Hercynian Corsica written by Maria Di Rosa and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Science categories.
In this work the central area of Corsica island was studied in order to reconstruct the tectono-metamorphic history of the continental and oceanic high pressure units that occupy the structurally deeper levels of the tectonic stacking of Alpine Corsica and their stratigraphic and structural relationship with the European margin (Hercynian Corsica). The study includes the geological mapping, the mesoscale and microscale structural analysis, the acquisition of chemical analyzes and micromaps with the microprobe, thermobarometric estimation through specific methodologies for metapelites, U-Th-Pb dating of zircons and allanites. The results obtained allows to reconstruct the geodynamic model of this sector of the Alpine belt from the Permian to the Burdigalian.
Advanced Ground Based Real And Synthetic Aperture Radar
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Author : Lapo Miccinesi
language : en
Publisher: Firenze University Press
Release Date : 2022
Advanced Ground Based Real And Synthetic Aperture Radar written by Lapo Miccinesi and has been published by Firenze University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with Technology & Engineering categories.
Ground-based/terrestrial radar interferometry (GBRI) is a scientific topic of increasing interest in recent years. The GBRI is used in several field as remote sensing technique for monitoring natural environment (landslides, glacier, and mines) or infrastructures (bridges, towers). These sensors provide the displacement of targets by measuring the phase difference between sending and receiving radar signal. If the acquisition rate is enough the GBRI can provide the natural frequency, e.g. by calculating the Fourier transform of displacement. The research activity, presented in this work, concerns design and development of some advanced GBRI systems. These systems are related to the following issue: detection of displacement vector, Multiple Input Multiple Output (MIMO) and radars with 3D capability.
Multifaceted Genes In Amyotrophic Lateral Sclerosis Frontotemporal Dementia
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Author : Henry Houlden
language : en
Publisher: Frontiers Media SA
Release Date : 2021-06-28
Multifaceted Genes In Amyotrophic Lateral Sclerosis Frontotemporal Dementia written by Henry Houlden and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-28 with Science categories.
Brenner And Rector S The Kidney E Book
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Author : Alan S. L. Yu
language : en
Publisher: Elsevier Health Sciences
Release Date : 2019-09-25
Brenner And Rector S The Kidney E Book written by Alan S. L. Yu and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-09-25 with Medical categories.
Put the world's most well-known kidney reference to work in your practice with the 11th Edition of Brenner & Rector's The Kidney. This two-volume masterwork provides expert, well-illustrated information on everything from basic science and pathophysiology to clinical best practices. Addressing current issues such as new therapies for cardiorenal syndrome, the increased importance of supportive or palliative care in advanced chronic kidney disease, increasing live kidney donation in transplants, and emerging discoveries in stem cell and kidney regeneration, this revised edition prepares you for any clinical challenge you may encounter. - Extensively updated chapters throughout, providing the latest scientific and clinical information from authorities in their respective fields. - Lifespan coverage of kidney health and disease from pre-conception through fetal and infant health, childhood, adulthood, and old age. - Discussions of today's hot topics, including the global increase in acute kidney injury, chronic kidney disease of unknown etiology, cardiovascular disease and renal disease, and global initiatives for alternatives in areas with limited facilities for dialysis or transplant. - New Key Points that represent either new findings or "pearls" of information that are not widely known or understood. - New Clinical Relevance boxes that highlight the information you must know during a patient visit, such as pertinent physiology or pathophysiology. - Hundreds of full-color, high-quality photographs as well as carefully chosen figures, algorithms, and tables that illustrate essential concepts, nuances of clinical presentation and technique, and clinical decision making. - A new editor who is a world-renowned expert in global health and nephrology care in underserved populations, Dr. Valerie A. Luyckx from University of Zürich. - Board review-style questions to help you prepare for certification or recertification. - Enhanced eBook version included with purchase, which allows you to access all of the text, figures, and references from the book on a variety of devices
Role Of Genetics And Epigenetics In Major Structural Malformations
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Author : Duan Ma
language : en
Publisher: Frontiers Media SA
Release Date : 2022-11-07
Role Of Genetics And Epigenetics In Major Structural Malformations written by Duan Ma and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-11-07 with Science categories.