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 2024)
P444: Novel RET variant in two unrelated patients with Hirschsprung disease and congenital anomalies of kidney and urinary tract
Ozlem Turedi,
Jessica Tenney,
Jacquelyn Britton,
Lauren Meiss,
Sonja Rasmussen,
Erica Winnicki,
Vivien Nguyen,
Molly Sheridan,
Dane Witmer
Affiliations
Ozlem Turedi
University of California San Francisco
Jessica Tenney
Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco
Jacquelyn Britton
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Lauren Meiss
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Sonja Rasmussen
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Erica Winnicki
Division of Pediatric Nephrology, Department of Pediatrics, University of California, San Francisco
Vivien Nguyen
Division of Pediatric Gastroenterology, Department of Pediatrics, University of California, San Francisco
Molly Sheridan
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Dane Witmer
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD
Journal volume & issue
Vol. 2
p. 101338
Abstract
Read online
No abstracts available.
WeChat QR code
Close