Publications
Download CSV
Download XLSX
Download TXT
Tables
2024 (575)
2023 (879)
2022 (829)
2021 (892)
2020 (640)
2019 (727)
2018 (651)
2017 (681)
2016 (664)
2015 (429)
2014 (376)
2013 (319)
2012 (245)
2011 (163)
2010 (139)
All (8209)
Infrastructure Units
Infrastructure Units list
Infrastructure Units table
Researchers
Subset
Documentation
About
Contact
Software
Login
Thurm A
JSON
CSV
XLSX
TXT
Family name
Thurm
Given name
Audrey
Initials
A
ORCID
ORCID
0000-0002-0489-9485
Affiliations
Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, 20892, USA.
1 publications
PubMed
DOI
Crossref
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Whitman MC
,
Barry BJ
,
Robson CD
, ...,
Manoli I
,
Engle EC
Hum Genet
140
(12) 1709-1731 [2021-12-00; online 2021-10-15]
Clinical Genomics Stockholm [Service]
SciLifeLab Data Centre
Publications
9.5.1