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
Molecular Genetics & Genomic Medicine
(Feb 2020)
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Teresa Romeo Luperchio,
Carolyn D. Applegate,
Olaf Bodamer,
Hans Tomas Bjornsson
Affiliations
Teresa Romeo Luperchio
McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA
Carolyn D. Applegate
McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA
Olaf Bodamer
Division of Genetics and Genomics Department of Pediatrics Boston Children's Hospital Harvard Medical School Boston MA USA
Hans Tomas Bjornsson
McKusick‐Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA
DOI
https://doi.org/10.1002/mgg3.1072
Journal volume & issue
Vol. 8, no. 2
pp. n/a – n/a
Abstract
Read online
No abstracts available.
WeChat QR code
Close