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19 research outputs found
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
Author
AI Hollander den
BA Tucker
+24Â more
DT Hartong
E Prokofyeva
Fei Gao
FP Cremers
Hui Guo
IM MacDonald
IM MacDonald
JA Hurk van den
JA Hurk van den
Jiangxia Li
Jisheng Li
MC Seabra
MC Seabra
MF Roberts
MJ Furgoch
Qiji Liu
RG Coussa
S Li
T Abe
T Tolmachova
Xinyi Wu
Y Iino
Y Xu
YV Sergeev
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
Structure, regulation and cellular functions of Rab geranylgeranyl transferase and its cellular partner Rab Escort Protein
Author
Alory C
Alory C
+66Â more
Bauer BE
Benes CH
Bialek-Wyrzykowska U
Chen EJ
Chia WJ
Coussa RG
Cremers FP
Detter JC
Dursina B
Esposito G
Ewa Swiezewska
Fujimura K
Garcia-Hoyos M
Gerber E
Guo Z
Hala M
Hala M
Hutagalung AH
Jacoby JJ
Jorgensen P
Keiser NW
Kobe B
Krock BL
Lachance V
Lawson M
Lempiainen H
Leung KF
Li W
Lund RD
MacDonald IM
MacDonald IM
Malgorzata Gutkowska
Miaczynska M
Miaczynska M
Nalefski EA
Newman AP
Nguyen UT
Pandit S
Pylypenko O
Ragnini A
Rak A
Rak A
Rasteiro R
Rodrigues MM
Rogers MJ
Scriver CR
Seabra MC
Seabra MC
Sergeev YV
Si X
Singh J
Skorupinska-Tudek K
Starr CJ
Strunnikova NV
Tanaka D
Thoma NH
Thoma NH
Tolmachova T
van den Hurk JA
van Gele M
Vincent K
Waldherr M
Witter DJ
Wojtas M
Wu YW
Zhang H
Publication venue
'Informa UK Limited'
Publication date
Field of study
Full text link
Crossref
Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces
Author
A. V. Levin
Coussa RG
+5Â more
Isolation of a novel gene underlying Batten disease CLN3
J. E. Capasso
Maclure GM
Neufeld AH
T. A. C. de Guimaraes
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Multimodal assessment of choroideremia patients defines pre-treatment characteristics
Author
A Rak
Ahmad Zhour
+27Â more
Barbara Wilhelm
C Bellmann
Eberhart Zrenner
FP Cremers
FP Cremers
FP Cremers
FP Cremers
FP Cremers
FP Cremers
Immanuel P. Seitz
JT Holladay
Karl Ulrich Bartz-Schmidt
M. Dominik Fischer
Marius Ueffing
MD Fischer
MD Fischer
MF Roberts
MJ Furgoch
Pablo Llavona
RE MacLaren
RG Coussa
RG Coussa
S Wiethoff
ST Wavre-Shapton
Susanne Kohl
T Tolmachova
Tobias Peter
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
Author
AE Merrill
AM McInerney-Leo
+25Â more
C Bredrup
C Gilissen
CA Schneider
D Huangfu
E Huynh Cong
G Baujat
GJ Pazour
HH Arts
I Duran
J de Vries
J Schindelin
J Schindelin
J Walczak-Sztulpa
JL Rosenbaum
JM Bland
JT Eggenschwiler
M Schmidts
M Schmidts
M Schmidts
NC Ho
P Mill
P Rentzsch
RG Coussa
S Richards
TW Hurd
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Genomics in the renal clinic - translating nephrogenetics for clinical practice
Author
A Kirby
A Mallett
+29Â more
AB Ekici
AIHW
C Musetti
C Shaw
D Trujillano
DY Hwang
E Huynh Cong
F Bu
F Ozaltin
H Burton
HY Gee
J Fletcher
J Halbritter
J Halbritter
JM Wentworth
L Sang
M Chaki
M Failler
M Lemaire
M Takasato
O Boyer
P Saisawat
R Skrunes
RA Gbadegesin
RG Coussa
RN Battista
S Sanna-Cherchi
V Moriniere
XP Qi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Novel CHM mutations identified in Chinese families with Choroideremia
Author
A McKenna
FP Cremers
+26Â more
G Rudolph
H Guo
H Li
H van Bokhoven
IM MacDonald
JA van den Hurk
JB Pereira-Leal
M Schwartz
MA Genead
MC Seabra
MC Seabra
MJ Furgoch
PG Binkhorst
Q Zhou
RE MacLaren
RG Coussa
RS Goody
S Li
SJ O
SP Yip
T Tolmachova
XF Huang
Y Iino
Y Lin
Y Sun
YV Sergeev
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models
Author
A Rak
A Somers
+64Â more
Aaron D. Black
Albert M. Maguire
Alfred Lewin
AM Maguire
AM Maguire
D Amado
D Grimm
Daniel C. Chung
Deborah L. French
E-M Sankila
Etiena Basner-Tschakarjan
EV Rafuse
F Simonelli
FL Zhang
FP Cremers
FPM Cremers
FRM Cremers
H van Bokhoven
Helen Mac
HJ Perez-Cano
IM MacDonald
J Bennett
JA van den Hurk
Jason A. Mills
Jean Bennett
Jeannette L. Bennicelli
JG Flannery
JM Polo
JM Polo
JS Meyer
K Alexandrov
K Kim
KE McGrath
Krill Alexandrov
L Warren
Lisa Sullivan
LM Hoffman
M Zerial
MC Seabra
MC Seabra
MC Seabra
MC Seabra
MJ Phillips
Monika Kohnke
N Keiser
NV Strunnikova
O Pylypenko
P Forsythe
Paul Gadue
PH Lerou
PH Lerou
Rajashekhar Gaddameedi
RG Coussa
RG Coussa
RW Herzog
S Pfeffer
SE Raper
Shangzhen Zhou
T Tolmachova
T Tolmachova
V Anand
V Vasireddy
Vidyullatha Vasireddy
YV Sergeev
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome
Author
AA Bizet
AC Loken
+37Â more
B Chang
B Senior
BE Tanos
C Bredrup
CC Ronquillo
D Kong
DL McCulloch
EA Otto
EA Otto
EA Otto
EM Valente
F Hildebrandt
F Hildebrandt
G Mollet
G Mollet
H Olbrich
J Li
JA Sayer
JL Badano
LC Keller
M Castro-Miro de
M Chaki
M Failler
M Fliegauf
MP Clarke
MT Wolf
N Adly
RG Coussa
RN Schimke
S Katagiri
S Katagiri
S Katagiri
S Katagiri
S Saunier
V Godel
X Ye
Y Omori
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Relative frequency of inherited retinal dystrophies in Brazil
Author
AI Hollander den
Ameenat Lola Solebo
+35Â more
B Bocquet
BM Nash
CL Freund
DT Hartong
EM Stone
FL Motta
H Morimura
IM Armitage
J Gettelfinger
JA Boughman
JP-W Chiang
K Bujakowska
K Lee
M Haim
M Karali
M Kniazeva
M-P Agbaga
MV Salles
MV Salles
N Unonius
R Allikmets
R Vervoort
RG Coussa
RJC Admiraal
RRA Bourne
S Albert
S Daiger
S Gerber
S Logan
S Richards
Sanne K. Verbakel
Suzanne Broadgate
V Pelletier
X-F Huang
ZT Soens
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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