The Directory of Open Access Journals
DOAJ Logotype
Open
Global
Trusted
Main actions
Support
Institutions and libraries
Publishers
Institutional and library supporters
Apply
Application form
Guide to applying
The DOAJ Seal
Transparency & best practice
Publisher information
Licensing & copyright
Search
Menu
Secondary actions
Search
Journals
Articles
Documentation
API
OAI-PMH
Widgets
Public data dump
OpenURL
XML
Metadata help
Preservation
About
About DOAJ
DOAJ at 20
DOAJ team
Ambassadors
Advisory Board & Council
Volunteers
News
Support
Institutions and libraries
Publishers
Institutional and library supporters
Apply
Application form
Guide to applying
The DOAJ Seal
Transparency & best practice
Publisher information
Licensing & copyright
Login
Login
Quick search
Close
×
Journals
Articles
Search by keywords:
In the field:
In all fields
Title
ISSN
Subject
Publisher
Country of publisher
Search
Genetics in Medicine Open
(Jan 2024)
P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians
Lakshmi Mehta,
Yakira Begun,
May Sanyoura,
Christine Stanley
Affiliations
Lakshmi Mehta
Columbia University Medical Center, New York, NY
Yakira Begun
Columbia University Medical Center, New York, NY
May Sanyoura
GeneDx Inc
Christine Stanley
Variantyx, Inc
Journal volume & issue
Vol. 2
p. 101138
Abstract
Read online
No abstracts available.
WeChat QR code
Close
