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)
P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing
Ruby Liu,
Babi Ramesh Reddy Nallamilli,
Christin Collins,
Lora Bean,
Madhuri Hegde
Affiliations
Ruby Liu
Revvity Omics
Babi Ramesh Reddy Nallamilli
Revvity Omics
Christin Collins
Revvity Omics
Lora Bean
Revvity Omics
Madhuri Hegde
Revvity Omics
Journal volume & issue
Vol. 2
p. 101505
Abstract
Read online
No abstracts available.
WeChat QR code
Close