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在“
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”中,
命中:
1,204
条,耗时:0.0149923 秒
在所有数据库中总计命中:
1,020,355
条
1.
Identifi
c
ation of
C12orf4
as a gene for autosoma
l
re
c
essive inte
ll
e
c
tua
l
disabi
l
ity
作者:
A.K. Phi
l
ips
;
M. Pine
ll
i
;
C
.I. de Bie
;
A. Mustonen
;
T. M&aum
l
;
&aum
l
;
tt&aum
l
;
H.H. Arts
;
K. Wu
;
R. Roepman
;
J.S. Moi
l
anen
;
S. Raza
;
T. Vari
l
o
;
G. S
c
a
l
a
;
S.
C
o
c
ozza
;
C
. Gi
l
issen
;
K.
L
.I. van Gassen and I. J&aum
l
;
rve
l
&aum
l
刊名:
Cl
ini
c
a
l
Geneti
c
s
出版年:2017
2.
Autosoma
l
re
c
essive mutations in
THOC6
c
ause inte
ll
e
c
tua
l
disabi
l
ity: syndrome de
l
ineation requiring forward and reverse phenotyping
作者:
J.S. Amos
;
L
. Huang
;
J. Thevenon
;
A. Kariminedjad
;
C
.
L
. Beau
l
ieu
;
A. Masure
l
-Pau
l
et
;
H. Najmabadi
;
Z. Fattahi
;
M. Beheshtian
;
S.H. Tonekaboni
;
S. Tang
;
K.
L
. He
l
big
;
W. A
lc
araz
;
J.-B. Riviè
;
re
;
L
. Faivre
;
A.M. Innes
;
R.R.
L
ebe
l
;
K.M. Boy
c
ott and Care4Rare Canada Consortium
刊名:
Cl
ini
c
a
l
Geneti
c
s
出版年:2017
3.
De
l
ineation of Eh
l
ers-Dan
l
os syndrome phenotype due to the
c
.934C>T, p.(Arg312Cys) mutation in
COL1A1
: Report on a three-generation fami
l
y without
c
ardiovas
c
u
l
ar events, and
l
iterature review
作者:
Marina
C
o
l
ombi
;
C
hiara Dordoni
;
Marina Venturini
;
Arianna Zan
c
a
;
Piergia
c
omo Ca
l
zavara-Pinton and Mar
c
o Rite
ll
i
刊名:Ameri
c
an Journa
l
of Medi
c
a
l
Geneti
c
s Part A
出版年:2017
4.
Rea
l
-wor
l
d effe
c
tiveness for 12 weeks of
l
edipasvir-sofosbuvir for genotype 1 hepatitis C: the Trio
Heal
th study
作者:
E. B. Tapper
;
B. R. Ba
c
on
;
M. P.
C
urry
;
D. T. Dieteri
c
h
;
S.
L
. F
l
amm
;
L
. E. Guest
;
K. V. Kowd
l
ey
;
Y.
L
ee
;
N.
C
. Tsai
;
Z. M. Younossi and N. H. Afdha
l
刊名:Journa
l
of Vira
l
Hepatitis
出版年:2017
5.
Mutations of
SGO2
and
CL
DN14
c
o
ll
e
c
tive
l
y
c
ause
c
oin
c
identa
l
Perrau
l
t syndrome
作者:
R. Faridi
;
A.U. Rehman
;
R.J. More
ll
;
P.
L
. Friedman
;
L
. Demain
;
S. Zahra
;
A.A. Khan
;
D. Toh
l
ob
;
M.Z. Assir
;
G. Beaman
;
S.N. Khan
;
W.G. Newman
;
S. Riazuddin and T.B. Friedman
刊名:
Cl
ini
c
a
l
Geneti
c
s
出版年:2017
6.
Nonisotherma
l
sintering of
C
r
2
A
l
C powder
作者:
Yembadi Rajkumar
;
Bapurao M. Rahu
l
;
Puppa
l
a Ananth Akash and Bharat B. Panigrahi
刊名:Internationa
l
Journa
l
of App
l
ied
C
erami
c
Te
c
hno
l
ogy
出版年:2017
7.
Re: Pre‐e
cl
ampsia: an important risk fa
c
tor for asymptomati
c
hea
rt fai
l
ure. C. Ghossein‐Doha, J. van Neer, B. Wissink, N. Breetve
l
d, L. J. de Windt, A. P. J. van Dijk, M. J. van der V
l
ugt, M. C. H. Janssen, W. M. Heidema, R. R. S
c
ho
l
ten and M. E. A. Spaanderman.
U
l
trasound Obstet Gyne
c
o
l
2017; 49: 143–149.
作者:
H. Boardman
刊名:U
l
trasound in Obstetri
c
s & Gyne
c
o
l
ogy
出版年:2017
8.
Dibenzo[
def,p
]
c
hrysene transp
l
a
c
enta
l
c
ar
c
inogenesis in wi
l
d-type,
Cyp1b1
kno
c
kout, and
CYP1B1
humanized mi
c
e
作者:
Erin P. Madeen
;
C
hristiane V.
L
&oum
l
;
hr
;
Hannah You
;
L
isbeth K. Siddens
;
Sharon K. Krueger
;
Roderi
c
k H. Dashwood
;
Frank J. Gonza
l
ez
;
Wi
ll
iam M. Baird
;
Emi
l
y Ho
;
L
isa Bramer
;
Katrina M. Waters and David E. Wi
ll
iams
刊名:Mo
l
e
c
u
l
ar Car
c
inogenesis
出版年:2017
9.
Physio
l
ogi
c
a
l
Response to
Hea
t Stress During Seed
l
ing and Anthesis Stage in Tomato Genotypes Differing in Heat To
l
eran
c
e
作者:
R. Zhou
;
K. H. Kj&ae
l
ig
r ;
E. Rosenqvist
;
X. Yu
;
Z. Wu and
C
.-O. Ottosen
刊名:Journa
l
of Agronomy and
C
rop S
c
ien
c
e
出版年:2017
10.
Smith-Kingsmore syndrome: A third fami
l
y with the
MTOR
mutation
c
.5395G>A p.(G
l
u1799Lys) and eviden
c
e for paterna
l
gonada
l
mosai
c
ism
作者:
Shahida Moosa
;
He
l
ena B&oum
l
;
hrer-Rabe
l
;
Janine A
l
tm&uum
l
;
ll
er
;
Fi
l
ippo Be
l
eggia
;
Peter N&uum
l
;
rnberg
;
Yun
L
i
;
G&oum
l
;
khan Yigit and Bernd Wo
ll
nik
刊名:Ameri
c
an Journa
l
of Medi
c
a
l
Geneti
c
s Part A
出版年:2017
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