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
Editorial Policy Advisory Group
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 2023)
P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry
Priya Kishnani,
Kathryn Dahir,
Gabriel Martos-Moreno,
Agnès Linglart,
Anna Petryk,
William Mowrey,
Shona Fang,
Cheryl Rockman-Greenberg,
Keiichi Ozono,
Wolfgang Högler,
Lothar Seefried
Affiliations
Priya Kishnani
Duke University Medical Center, Durham, NC
Kathryn Dahir
Vanderbilt University Medical Center, Nashville, TN
Gabriel Martos-Moreno
Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain
Agnès Linglart
Paris-Saclay University, AP-HP and INSERM, Paris, France
Anna Petryk
Alexion, AstraZeneca Rare Disease, Boston, MA
William Mowrey
Alexion, AstraZeneca Rare Disease, Boston, MA
Shona Fang
Alexion, AstraZeneca Rare Disease, Boston, MA
Cheryl Rockman-Greenberg
University of Manitoba, Winnipeg, Manitoba, Canada
Keiichi Ozono
Osaka University, Suita, Osaka, Japan
Wolfgang Högler
Johannes Kepler University Linz, Linz, Austria
Lothar Seefried
University of Würzburg, Würzburg, Germany
Journal volume & issue
Vol. 1, no. 1
p. 100541
Abstract
Read online
No abstracts available.
WeChat QR code
Close