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2 research outputs found
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants
Author
A Pincon
AF Hofmann
+49 more
AG Feldman
Ali Almehaideb
Amal Alhashem
AP Mansini
Awad Alqahtani
C Coffinier
C Esteve
D Keppler
D Monies
F Tezanos Pinto de
Firdous Abdulwahab
Fowzan S. Alkuraya
FS Alkuraya
FS Alkuraya
FS Alkuraya
GS Lakshmikanth
Hamad Alzaidan
Hamoud Alhebbi
Hessa S. Alsaif
HL Chen
HQ Phang
Hussa Al- Hussaini
JL Hoon
L Wang
M Dokmanovic-Chouinard
M Grati
M Kazmierczak
M Mrug
M Sambrotta
M Shagrani
M Usenovic
MA Kim
Mohammed Barr
N Hirokawa
Niema Ibrahim
Omai AlSasi
P McKiernan
PM Verhulst
Q Chen
R Fawaz
S Massinen
S Mesli
S Przybylla
Sami Wali
Sateesh Maddirevula
T Grammatikopoulos
T Nakagawa
Talal Algoufi
Y Wakabayashi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin
Author
A Groen
A Salyani
+65 more
Abdul Ali Peer-Zada
Abdulrahman A. Al‐Hussaini
AS Knisely
Awad Albassami
BC Deng
BN Giepmans
CC Paulusma
CS Wei
DE Folmer
DW Parsons
EL Cancado
Essa Alharby
F Balsells
F Ermis
Fowzan S. Alkuraya
G Engelmann
G Folvik
H Wietholtz
H Wietholtz
Hamoud Alhebbi
HU Marschall
HY Wang
Ibrahim M. Alruzug
J Zhang
J Zhang
JM Stapelbroek
JP Andersen
L Alvarez
L Pawlikowska
L Pawlikowska
M Hasanuzzaman
M Kazmierczak
M Piazzolla
M Sambrotta
MA Kim
Manar A. Samman
MJ Sohn
NA van Ooteghem
Naif A. M. Almontashiri
Nasser AlMasri
P Gissen
P Lam
PM Verhulst
R Shaheen
Roy W. A. Peake
S Hadj-Rabia
S Maddirevula
S Richards
S Zhou
SA Henkel
Sami Wali
Sara Algubaisi
Sateesh Maddirevula
SS Strautnieks
SW Kim
SW van Mil
Syed Zubair Ayoub
T Kumagi
T Mizuochi
T Uehara
V Quesada
VA Luketic
VE Carlton
Yasir Alrusayni
YL Qiu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref