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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
10.1084/jem.20161525
000395828600005
28148688
Volpi
S.
author
Yamazaki
Y.
author
Brauer
P.M.
author
van Rooijen
E.
author
Hayashida
A.
author
Slavotinek
A.
author
Sun Kuehn
H.
author
Di Rocco
M.
author
Rivolta
C.
author
Bortolomai
I.
author
Du
L.
author
Felgentreff
K.
author
Ott de Bruin
L.
author
Hayashida
K.
author
Freedman
G.
author
Marcovecchio
G.E.
author
Capuder
K.
author
Rath
P.
author
Luche
N.
author
Hagedorn
E.J.
author
Buoncompagni
A.
author
Royer-Bertrand
B.
author
Giliani
S.
author
Poliani
P.L.
author
Imberti
L.
author
Dobbs
K.
author
Poulain
F.E.
author
Martini
A.
author
Manis
J.
author
Linhardt
R.J.
author
Bosticardo
M.
author
Rosenzweig
S.D.
author
Lee
H.
author
Puck
J.M.
author
Zúñiga-Pflücker
J.C.
author
Zon
L.
author
Park
P.W.
author
Superti-Furga
A.
author
Notarangelo
L.D.
author
article
2017-03-06
The Journal of experimental medicine
1540-9538
0022-1007
journal
214
3
623-637
eng
60_published
true
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish
https://serval.unil.ch/notice/serval:BIB_A5331400A820
https://serval.unil.ch/resource/serval:BIB_A5331400A820.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A5331400A8206
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