CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
2 research outputs found
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Author
Allen William
Angione Kaitlin M.
+30Â more
Bonati Maria T.
Brasington Campbell
Cho Megan T.
Demmer Laurie A.
Di Donato Nataliya
Edwards Stacey L.
Falik-Zaccai Tzipora
Gamble Candace N.
Hellenbroich Yorck
Iascone Maria
Jamra Rami
Kok Fernando
Lemke Johannes R.
Mahida Sonal
Mandel Hanna
Marquardt Thorsten
McWalter Kirsty
Miller Kenneth G.
Panis Bianca
Pepler Alexander
Pinz Hailey
Platzer Konrad
Ramos Luiza
Shinde Deepali N.
Smith-Hicks Constance
Stegmann Alexander P. A.
Sticht Heinrich
Stoebe Petra
Stumpel Constance T. R. M.
Wilson Carolyn
Publication venue
'Elsevier BV'
Publication date
07/02/2019
Field of study
No full text
Maastricht University Research Portal
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
Author
Bo Yuan
C Gonzaga-Jauregui
+27Â more
Candace N Gamble
Claudia Gonzaga-Jauregui
DA Plumb
DA Plumb
Donna M Muzny
E Jenkins
H Li
HE Christiansen
HE MacLean
HH Steel
Jacqueline T Hecht
James R Lupski
JF Bateman
JL Mayo
JM Flynn
JM Pace
JR Lupski
K Wang
MN Bainbridge
R Hjorten
R Pogue
Richard A Gibbs
RP Boot-Handford
Samantha Penney
Shalini Jhangiani
WA Horton
Y Shen
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref