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4 research outputs found
Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients
Author
A Czlonkowska
A Dhawan
+37Â more
AA Asadi Pooya
Ahmed Shadeed
EA Roberts
Ezzat S Elsobky
G Loudianos
GJ Brewer
GJ Brewer
GJ Brewer
Hartmut Schmidt
I Sternlieb
I Sternlieb
IH Scheinberg
JM Walshe
JM Walshe
M Amira
MM Mokhtar
N Kasai
P Ferenci
P Steindl
PC Bull
R Arnon
R Giacchino
R Iorio
R Sallie
RE Tanzi
RJ Cousins
S Falkmer
S Ozsoylu
Solaf M Elsayed
Suzan Elnaghy
T Satio
Tawhida Y Abdel Ghaffar
TY Abdelghaffar
U Merle
U Merle
V Kalra
WW Daniel
Publication venue
BioMed Central
Publication date
01/01/2011
Field of study
Get PDF
Crossref
Springer - Publisher Connector
PubMed Central
Phenotype-Genotype Correlation in Wilson Disease in a Large Lebanese Family: Association of c.2299insC with Hepatic and of p. Ala1003Thr with Neurologic Phenotype
Author
A Gupta
AB Shah
+49Â more
AM Wilson
Antonios Wehbeh
B Barbour
BD Obrador
D Curtis
DL Huffman
E Margarit
E Nicastro
E Panagiotakaki
G Chabik
G Loudianos
GR Thomas
H Dastsooz
H Hofer
H Kalinsky
HW Yoo
I Sternlieb
J Keandaungjuntr
J Usta
JM Stapelbroek
Julnar Usta
K Barada
K Barada
K Petrukhin
Kassem Barada
Khaled Rida
KM Kegley
L Wan
LB Moller
M Harada
M Pinzani
MM Deguti
O Simsek Papur
Oleg Y. Dmitriev
Omar El-Rifai
P Butler
P Ferenci
P Ferenci
P Ferenci
PJ Gow
R Bruha
S Kumar
Tamar Majarian
TF Cheng
Theresa Alicia Estiphan
TY Abdel Ghaffar
TY Abdelghaffar
V Mihaylova
YH Gu
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
Author
A Ala
A Angius
+53Â more
A Brage
A Folhoffer
A Gupta
AB Shah
AB Taly
B Tarnacka
D Curtis
E Margarit
E Panagiotakaki
E Waldenstrom
G Firneisz
G Gromadzka
G Gromadzka
G Loudianos
G Loudianos
GA Machin
GR Thomas
H Kalinsky
HH Duc
HW Yoo
IA Ivanova-Smolenskaya
JM Stapelbroek
K Barada
K Barada
K Caca
KM Kegley
L Garcia-Villarreal
L Kucinskas
M Prella
MF Fraga
MM Deguti
N Manolaki
P Butler
P Ferenci
P Ferenci
R Palsson
RH Houwen
S Caprai
S Horslen
S Santhosh
S Santhosh
S Vrabelova
SM Riordan
T Maier-Dobersberger
T Okada
TY Abdelghaffar
U Merle
XQ Liu
Y Kusuda
Y Takeshita
YH Gu
ZY Wu
ZY Wu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease
Author
A Aggarwal
A Ala
+55Â more
A Gomes
A Poujois
AB Shah
AF Stattermayer
AJ Coffey
BG Hughes
C Collet
CA Kroll
Daniel F. Wallace
DF Wallace
DM Ruderfer
DW Cox
E Afgan
E Margarit
EK Kim
G Loudianos
G Loudianos
G Loudianos
GV Dedoussis
H Carter
IH Scheinberg
IJ Chang
J Gao
James S. Dooley
K Ohya
L Garcia-Villarreal
LB Moller
LP Davies
M Bost
M Bost
M Lek
M Owada
M Wildeman
MB Lepori
MM Deguti
N Tang
N Whiffin
P Ferenci
P Ferenci
R Hua
RH Park
S Guttmann
S Mukherjee
S Richards
S Santhosh
S Vrabelova
SH Hahn
T Ohura
T Okada
TD Sandahl
TD Sandahl
TY Abdelghaffar
U Merle
V Medici
ZF Yuan
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref