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6 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
+24 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
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Crossref
A novel SVA retrotransposon insertion in the CHM
Author
Furgoch MJ
Mitsios A
Shen L
Tavares E
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Ocular gene therapy for choroideremia: clinical trials and future perspectives
Author
Furgoch MJ
Hull S
+4 more
Kanmin Xue
Mauthner L
Robert E. MacLaren
Trapani I
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Novel CHM mutations identified in Chinese families with Choroideremia
Author
A McKenna
FP Cremers
+26 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
Multimodal assessment of choroideremia patients defines pre-treatment characteristics
Author
A Rak
Ahmad Zhour
+27 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
The experience of speech recognition software abandonment by adolescents with physical disabilities
Author
Alcantud F
Amita Bhargava Furgoch
+28 more
Bell J
Clandinin DJ
Copley J
Creswell JW
Creswell JW
Denzin NK
Geertz C
Goette T
Gradel K
Jeffs T
Kahn P
Koester H
Kotler A
Lindstrand P
MacArthur CA
Morrow S
Ollerenshaw J
Rebecca Van Schyndel
Rebman J
Riessman CK
Roberts K
Rogers EM
Rose Martini
Sahin I
Scherer MJ
Seymour W
Smith B
Tara Previl
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
No full text
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