Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /

Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development / / Dalila De Vita.

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, functiona...

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Superior document:Premio tesi di dottorato ; 88
VerfasserIn:
De Vita, Dalila,
Place / Publishing House:Firenze, Italy : : Firenze University Press,, [2021]
©2021
Year of Publication:2021
Language:English
Series:Premio Firenze University Press tesi di dottorato (Series) ; 88.
Physical Description:1 online resource (62 pages).
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spelling De Vita, Dalila, author.
Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development / Dalila De Vita.
Firenze, Italy : Firenze University Press, [2021]
©2021
1 online resource (62 pages).
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
Premio tesi di dottorato ; 88
Description based on publisher supplied metadata and other sources.
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.
Includes bibliographical references.
Brain Abnormalities.
88-5518-345-1
Premio Firenze University Press tesi di dottorato (Series) ; 88.
language English
format eBook
author De Vita, Dalila,
spellingShingle De Vita, Dalila,
Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
Premio tesi di dottorato ;
author_facet De Vita, Dalila,
author_variant v d d vd vdd
author_role VerfasserIn
author_sort De Vita, Dalila,
title Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
title_full Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development / Dalila De Vita.
title_fullStr Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development / Dalila De Vita.
title_full_unstemmed Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development / Dalila De Vita.
title_auth Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
title_new Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
title_sort functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
series Premio tesi di dottorato ;
series2 Premio tesi di dottorato ;
publisher Firenze University Press,
publishDate 2021
physical 1 online resource (62 pages).
isbn 88-5518-345-1
callnumber-first R - Medicine
callnumber-subject RC - Internal Medicine
callnumber-label RC395
callnumber-sort RC 3395 D4 42021
illustrated Not Illustrated
dewey-hundreds 600 - Technology
dewey-tens 610 - Medicine & health
dewey-ones 616 - Diseases
dewey-full 616.8
dewey-sort 3616.8
dewey-raw 616.8
dewey-search 616.8
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hierarchy_parent_title Premio tesi di dottorato ; 88
hierarchy_sequence 88.
is_hierarchy_title Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development /
container_title Premio tesi di dottorato ; 88
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