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内部出版物
Wiley电子期刊(22)
SpringerLink电子期刊(314)
Elsevier电子期刊(503)
Springer电子图书(3)
NATURE电子期刊(5)
ACS电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
503
条,耗时:小于0.01 秒
在所有数据库中总计命中:
862
条
1.
Whole exome sequencing reveals a mutation in an
osteogenesis
imperfecta
patient
作者:
Mehmet Ali Ergun
a
;
maliergun@gmail.com
;
Gamze Bilgili
b
;
Uğur Hamurcu
c
;
Atila Ertan
d
关键词:
Whole exome sequencing
;
Osteogenesis
imperfecta
;
Dentinogenesis
imperfecta
刊名:Meta Gene
出版年:2017
2.
Compound heterozygous variants in NBAS as a cause of atypical
osteogenesis
imperfecta
作者:
M. Balasubramanian
a
;
b
;
meena.balasubramanian@nhs.net
;
J. Hurst
c
;
S. Brown
d
;
N.J. Bishop
b
;
e
;
P. Arundel
b
;
C. DeVile
b
;
R.C. Pollitt
e
;
f
;
L. Crooks
f
;
g
;
D. Longman
h
;
J.F. Caceres
h
;
F. Shackley
i
;
S. Connolly
j
;
J.H. Payne
k
;
A.C. Offiah
b
;
e
;
D. Hughes
l
;
DDD Study
m
关键词:
Bone
;
Fragility
;
Osteogenesis
imperfecta
;
NBAS
;
Nonsense mediated decay (NMD)
;
Secretory pathway
;
Collagen expression
刊名:Bone
出版年:2017
3.
Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with
osteogenesis
imperfecta
type VIII
作者:
Yanru Huang
a
;
Libin Mei
a
;
Weigang Lv
b
;
Haoxian Li
b
;
Rui Zhang
a
;
Qian Pan
a
;
b
;
Hu Tan
a
;
Jing Guo
a
;
Xiaomei Luo
a
;
Chen Chen
a
;
Desheng Liang
a
;
b
;
liangdesheng@sklmg.edu.cn
;
Lingqian Wu
a
;
b
;
wulingqian@sklmg.edu.cn
关键词:
Osteogenesis
imperfecta
type VIII
;
P3H1
;
Compound heterozygous mutations
;
Targeted exome sequencing
刊名:Clinica Chimica Acta
出版年:2017
4.
Timing of dental development in
osteogenesis
imperfecta
patients with and without bisphosphonate treatment
作者:
Ilkka Vuorimies
a
;
b
;
Heidi Arponen
c
;
Helena Valta
b
;
Outi Tiesalo
c
;
Marja Ekholm
c
;
Helena Ranta
d
;
Marjut Evä
;
lahti
c
;
Outi Mä
;
kitie
a
;
b
;
e
;
f
;
outi.makitie@helsinki.fi
;
Janna Waltimo-Siré
;
n
b
;
c
关键词:
Bisphosphonate
;
Osteoclast
;
Pediatrics
;
Fracture
;
Pharmacology
刊名:Bone
出版年:2017
5.
Skeletal dysplasia
作者:
Ishani P. Shah
;
Bobin Varghese
;
James A Fernandes
关键词:
Dysplasia
;
genetics
;
osteogenesis
imperfecta
刊名:Surgery (Oxford)
出版年:2017
6.
Cardiological assessment of a cohort of Egyptian patients with
osteogenesis
imperfecta
type III
作者:
Heba Salah A. ElAbd
a
;
hsalahabd@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Mohamed Moghazy
b
关键词:
Osteogenesis
imperfecta
;
Cardiac function
;
ECHO
;
Osteogenesis
imperfecta
type III
;
Ventricular function
;
Extra skeletal abnormalities
刊名:Egyptian Journal of Medical Human Genetics
出版年:2016
7.
Ruptured intracranial aneurysm in patients with
osteogenesis
imperfecta
: 2 familial cases and a systematic review of the literature
作者:
T. Gaberel
a
;
b
;
thomas.gaberel@hotmail.fr
;
A. Rochey
a
;
C. di Palma
a
;
b
;
F. Lucas
a
;
E. Touze
b
;
c
;
E. Emery
a
;
b
关键词:
Microsurgery
;
Endovascular procedure
;
Osteogenesis
imperfecta
;
Intracranial aneurysm
;
Subarachnoid hemorrhage
刊名:Neurochirurgie
出版年:2016
8.
Phase angle and World Health Organization criteria for the assessment of nutritional status in children with
osteogenesis
imperfecta
作者:
Vicky Nogueira Pileggi
;
Antonio Rodolpho Hakime Scalize
;
José
;
Simon Camelo Junior
;
jscamelo@fmrp.usp.br" class="auth_mail" title="E-mail the corresponding author
关键词:
Osteogenesis
imperfecta
;
Phase angle
;
Nutritional status
刊名:Revista Paulista de Pediatria (English Edition)
出版年:2016
9.
Osteogenesis
imperfecta
type V: Genetic and clinical findings in eleven Chinese patients
作者:
Yi Liu
a
;
Jiawei Wang
b
;
c
;
Doudou Ma
a
;
Fang Lv
a
;
Xiaojie Xu
a
;
Weibo Xia
a
;
Yan Jiang
a
;
Ou Wang
a
;
Xiaoping Xing
a
;
Peiran Zhou
a
;
Jianyi Wang
a
;
Wei Yu
d
;
ASAN
b
;
c
关键词:
Osteogenesis
imperfecta
;
OI type V
;
Mutation in IFITM5
;
Zoledronic acid
刊名:Clinica Chimica Acta
出版年:2016
10.
Effect of anti-sclerostin therapy and
osteogenesis
imperfecta
on tissue-level properties in growing and adult mice while controlling for tissue age
作者:
Benjamin P. Sinder
a
;
b
;
1
;
William R. Lloyd
c
;
1
;
Joseph D. Salemi
a
;
b
;
Joan C. Marini
d
;
Michelle S. Caird
a
;
Michael D. Morris
c
;
Kenneth M. Kozloff
a
;
b
;
kenkoz@umich.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Sclerostin antibody
;
Osteogenesis
imperfecta
;
Raman spectroscopy
;
Nanoindentation
;
Anabolic therapy
;
Bone quality
刊名:Bone
出版年:2016
1
2
3
4
5
6
7
8
9
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