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
Advanced
  • P582: CSMD1 intragenic exonic...
  • Cite this
  • Text this
  • Email this
  • Print
  • Export Record
    • Export to RefWorks
    • Export to EndNoteWeb
    • Export to EndNote
  • Permanent link
P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders

P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders

Bibliographic Details
Main Authors: Yunjia Chen, Anna Hurst, Angela Seasely, Andrew Carroll, Fady Mikhail
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424006344
  • Holdings
  • Description
  • Similar Items
  • Staff View

Internet

http://www.sciencedirect.com/science/article/pii/S2949774424006344

Similar Items

  • P440: DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest an association with congenital anomalies and dysmorphism
    by: Yunjia Chen, et al.
    Published: (2023-01-01)
  • Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
    by: Kreuz Friedmar, et al.
    Published: (2009-09-01)
  • Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
    by: Elizabeth A. Werren, et al.
    Published: (2024-05-01)
  • A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication
    by: Takato Akiba, et al.
    Published: (2024-11-01)
  • Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis
    by: Goos, J, et al.
    Published: (2016)

Search Options

  • Search History
  • Advanced Search

Find More

  • Browse the Catalog
  • Browse Alphabetically
  • Explore Channels
  • Course Reserves
  • New Items

Need Help?

  • Search Tips
  • Ask a Librarian
  • FAQs