Skip to content
VuFind
English
Deutsch
Español
Français
Italiano
日本語
Nederlands
Português
Português (Brasil)
中文(简体)
中文（繁體）
Türkçe
עברית
Gaeilge
Cymraeg
Ελληνικά
Català
Euskara
Русский
Čeština
Suomi
Svenska
polski
Dansk
slovenščina
اللغة العربية
বাংলা
Galego
Tiếng Việt
Hrvatski
हिंदी
Հայերէն
Українська
Sámegiella
Монгол
Language
All Fields
Title
Author
Subject
Call Number
ISBN/ISSN
Tag
Find
Advanced
Exome sequencing in Patients w...
Cite this
Text this
Email this
Print
Export Record
Export to RefWorks
Export to EndNoteWeb
Export to EndNote
Permanent link
Exome sequencing in Patients with rare cortical malformations
Bibliographic Details
Main Authors:
Pagnamenta, A
,
Lise, S
,
Harrison, V
,
Kini, U
,
Stewart, H
,
Quaghebeur, G
,
Deng, A
,
Taylor, J
,
Keays, D
Format:
Conference item
Published:
2011
Holdings
Description
Similar Items
Staff View
Similar Items
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
by: Pagnamenta, A, et al.
Published: (2012)
A novel strategy combining array-CGH, whole-exome sequencing and in utero electroporation in rodents to identify causative genes for brain malformations
by: Conti, V, et al.
Published: (2017)
Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
by: Pagnamenta, A, et al.
Published: (2016)
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
by: Elena Perenthaler, et al.
Published: (2019-07-01)
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
by: Pagnamenta, A, et al.
Published: (2017)