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SpringerLink电子期刊(9)
NATURE电子期刊(1)
Elsevier电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
25
条
1.
Neuromuscul
a
r dise
a
se present
a
tion with three genetic defects involving two genomes
作者:
M
a
zhor Al-Dos
a
ry
;
Roger G. Whitt
a
ker
;
Jo
a
nn
a
H
a
ughton
;
Robert McF
a
rl
;
Judith
Goodship
;
Dougl
a
ss M. Turnbull
;
Robert W. T
a
ylor
关键词:
PEO
;
Mitochondri
a
l DNA
;
tRN
A
mut
a
tion
;
Single fibre
a
n
a
lysis
;
Segreg
a
tion
刊名:Neuromuscul
a
r Disorders
出版年:2009
2.
Ch
a
r
a
cteriz
a
tion of mut
a
tions in complement f
a
ctor I (CFI)
a
ssoci
a
ted with hemolytic uremic syndrome
作者:
D
a
vid K
a
v
a
n
a
gh
;
A
nn
a
Rich
a
rds
;
M
a
rin
a
Noris
;
Rich
a
rd H
a
uh
a
rt
;
M. K
a
thryn Liszewski
;
Di
a
n
a
K
a
rpm
a
n
;
Judith
A
.
Goodship
;
Veronique Freme
a
ux-B
a
cchi
;
Giuseppe Remuzzi
;
Timothy H.J.
Goodship
;
John P.
A
tki
关键词:
Hemolytic uremic syndrome
;
Thrombotic thrombocytopenic purpur
a
;
Complement
;
F
a
ctor I
;
F
a
ctor H
;
Membr
a
ne cof
a
ctor protein
;
Cof
a
ctor
a
ctivity
;
Ren
a
l tr
a
nspl
a
nt
a
tion
刊名:Molecul
a
r Immunology
出版年:2008
3.
16-P003 Evc
a
nd Evc2
a
re inter
a
cting cili
a
tr
a
nsmembr
a
ne proteins th
a
t modul
a
te Ihh sign
a
lling
作者:
Helen J. Bl
a
ir
;
Stu
a
rt Tompson
;
Yu-Ning Liu
;
Jennifer C
a
mpbell
;
Judith
A
.
Goodship
刊名:Mech
a
nisms of Development
出版年:2009
4.
Ch
a
r
a
cteriz
a
tion of mut
a
tions in complement f
a
ctor I (CFI)
a
ssoci
a
ted with hemolytic uremic syndrome
作者:
D
a
vid K
a
v
a
n
a
gh
;
A
nn
a
Rich
a
rds
;
M
a
rin
a
Noris
;
Rich
a
rd H
a
uh
a
rt
;
M. K
a
thryn Liszewski
;
Di
a
n
a
K
a
rpm
a
n
;
Judith
A
.
Goodship
;
Veronique Freme
a
ux-B
a
cchi
;
Giuseppe Remuzzi
;
Timothy H.J.
Goodship
;
John P.
A
tki
关键词:
Complement
;
Eye
;
Corne
a
l infl
a
mm
a
tion
;
Uveitis
;
A
ge rel
a
ted m
a
cul
a
r degener
a
tion
;
Di
a
betic retinop
a
thy
刊名:Molecul
a
r Immunology
出版年:2007
5.
F
a
ctor H
a
uto
a
ntibodies in
a
typic
a
l hemolytic uremic syndrome correl
a
te with CFHR1/CFHR3 deficiency
a
nd
a
ffect recognition functions
作者:
Mihá
;
ly Jó
;
zsi
;
Stef
a
nie Strobel
;
Sv
a
nte L.H. Zipfel
;
Heiko Richter
;
Stef
a
n Heinen
;
B
a
rb
a
r
a
Uzonyi
;
M
a
tthew Edey
;
D
a
nny Routledge
;
Lis
a
Str
a
in
;
A
nne E. Hughes
;
Judith
A
.
Goodship
;
Timothy H.J.
关键词:
Complement
;
Eye
;
Corne
a
l infl
a
mm
a
tion
;
Uveitis
;
A
ge rel
a
ted m
a
cul
a
r degener
a
tion
;
Di
a
betic retinop
a
thy
刊名:Molecul
a
r Immunology
出版年:2007
6.
Does complement f
a
ctor B h
a
ve
a
role in the p
a
thogenesis of
a
typic
a
l HUS?
作者:
D
a
vid K
a
v
a
n
a
gh
;
Eliz
a
beth J. Kemp
;
A
nn
a
Rich
a
rds
;
R
a
chel M. Burgess
;
Eliz
a
beth M
a
yl
a
nd
;
Judith
A
.
Goodship
a
nd Timothy H.J. Goodship
关键词:
H
a
emolytic ur
a
emic syndrome
;
Complement f
a
ctor B
;
H
a
plotype
;
Ren
a
l f
a
ilure
刊名:Molecul
a
r Immunology
出版年:2006
7.
Cili
a
a
nd dise
a
se
作者:
Eley
;
Lorr
a
ine
;
Y
a
tes
;
L
a
ur
a
M
;
Goodship
;
Judith
A
刊名:Current Opinion in Genetics & Development
出版年:2005
8.
Mut
a
tions in Two Nonhomologous Genes in
a
He
a
d-to-He
a
d Configur
a
tion C
a
use Ellis-v
a
n Creveld Syndrome
作者:
Victor L. Ruiz-Perez
;
W.J. Stu
a
rt Tompson
;
J. Helen Bl
a
ir
;
Cecili
a
Espinoz
a
-V
a
ldez
;
P
a
blo L
a
punzin
a
;
Eli
a
s O. Silv
a
;
Ben H
a
mel
;
John L. Gibbs
;
I
a
n D. Young
;
Mich
a
el J. Wright
;
Judith
A
.
Goodship
刊名:The
A
meric
a
n Journ
a
l of Hum
a
n Genetics
出版年:2003
9.
F
a
ctor H Mut
a
tions in Hemolytic Uremic Syndrome Cluster in Exons 18–20,
a
Dom
a
in Import
a
nt for Host Cell Recognition
作者:
A
nn
a
Rich
a
rds
;
M
a
rk R. Buddles
;
Rosem
a
ry L. Donne
;
Bern
a
rd S. K
a
pl
a
n
;
Edwin Kirk
;
Mich
a
el C. Venning
;
Christi
a
n L. Tielem
a
ns
;
Judith
A
.
Goodship
;
Timothy H.J.
Goodship
刊名:The
A
meric
a
n Journ
a
l of Hum
a
n Genetics
出版年:2001
10.
Prim
a
ry, Nonsyndromic Vesicoureteric Reflux
a
nd Its Nephrop
a
thy Is Genetic
a
lly Heterogeneous, with
a
Locus on Chromosome 1
作者:
S
a
lly A. Fe
a
ther
;
Sue M
a
lcolm
;
A
dri
a
n S. Woolf
;
Victori
a
Wright
;
Di
a
n
a
Bl
a
ydon
;
Christopher J.D. Reid
;
Fr
a
nces A. Flinter
;
Willem Proesm
a
ns
;
Koen Devriendt
;
Jo
a
n C
a
rter
;
P
a
ul W
a
rwicker
;
Timothy H.J.
Goodship
;
Judith
A
.
Goodship
刊名:The
A
meric
a
n Journ
a
l of Hum
a
n Genetics
出版年:2000
1
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2000年及以前(3)
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