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4 research outputs found
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Author
AR Mroch
J Thevenon
+5 more
K Inoue
Katia Hardies
MI Shevell
S Edvardson
VM Siu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
Author
A Plaitakis
AF Spencer
+50 more
AH Bhat
AH Schapira
AK Saha
Andrea Klein
Anita Rauch
AR Mroch
Barbara Plecko
CA Crutchfield
CA Smith
CA Smith
D Cantu
D Kessner
E Gaude
G Barrera
G Cairo
GJ Patti
H Schwender
HA Krebs
JD McGarry
JF Kerrigan
Katharina Steindl
L Abela
L He
LC Park
Lisa M. Crowther
Lucia Abela
M Baron
M Perluigi
M Zahavi
MD Metodiev
Mohanan PV Yamamoto H-a
O Elpeleg
OV Lushchak
Pascal Joset
Petras Dzeja
R Caspi
R Sadat
R Spiegel
R Tautenhahn
RM Denton
Ronen Spiegel
S Li
SJ Tabrizi
Sorina Mihaela Papuc
T Bourgeron
Thomas Luke Simmons
V Iacobazzi
YH Wei
Yoav Zehavi
Z Cheng
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong
Author
A Battaglia
A Caliebe
+55 more
AC Ho
Anita S. Y. Kan
AP Liu
AR Mroch
AS Kan
Brian H. Y. Chung
BW van Bon
C Orellana
CG Lee
DA Regier
DT Miller
E Palmer
Elizabeth T. Lau
ER Riggs
Gary T. K. Mok
GP Nowinski
GS Sagoo
HM Kearney
IY Iourov
J Saam
JH Byeon
JM Verhagen
JS Tsang
JU Kang
JW Ellison
KA Groth
Kelvin Y. K. Chan
KI Mills
L Aksglaede
L Edelmann
M Manning
Mary H. Tang
ME Coulter
Michael Edward Zwick
MP Adam
N Wald
P Stankiewicz
R Borgatti
R Hastings
R Hochstenbach
SA Adams
SJ Park
So Lun Lee
T Lukusa
Tiong Y. Tan
Victoria Q. Tao
W Burke
W Courtens
Wanling Yang
Wing Fai Tang
Winnie W. Y. Tso
Y Shen
Y Wu
Yoyo W. Y. Chu
Yu-lung Lau
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry
Author
A Agaimy
A Ly
+60 more
A Martinez-Mir
AL Folpe
AR Mroch
B Gardie
C Bardella
C Bardella
C Eng
Carolina Reyes
Daisuke Nonaka
E Campione
E Dulaimi
E Huter
GS Chuang
HJ Lehtonen
HJ Lehtonen
I Chan
IP Tomlinson
IP Tomlinson
J Sanz
J Sanz-Ortega
JP Bayley
JR Toro
JR Toro
K Garg
Karuna Garg
KL Gross
L Matyakhina
M Kiuru
M Mehine
M Onder
M Pithukpakorn
MA Siti-Aishah
MH Wei
MJ Merino
N Ternette
NA Alam
NA Alam
NA Alam
NL Alderson
Norma Frizzell
P Dundr
P Vahteristo
PJ Pollard
R Lehtonen
R Nagai
RL Grubb 3rd
Robert A Soslow
S Badeloe
S Badeloe
S Matsukuma
S Picaud
SK Ylisaukko-oja
SK Ylisaukko-oja
SW Bell
T Ahvenainen
T Makino
V Launonen
Y Yang
Yevgeniy Karamurzin
Ying-Bei Chen
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
No full text
