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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(5)
Elsevier电子期刊(19)
在“
Elsevier电子期刊
”中,
命中:
19
条,耗时:0.1079164 秒
在所有数据库中总计命中:
25
条
1.
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to
non
-
syndromic
cleft lip/palate
作者:
K.M. Dentino
1
;
A. Valstar
2
;
B.L. Padwa
1
;
bonnie.padwa@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
cleft lip/palate
;
hemifacial microsomia
刊名:International Journal of Oral and Maxillofacial Surgery
出版年:2016
2.
Mutation screening of IRF6 among families with
non
-
syndromic
oral clefts and identification of two novel variants: Review of the literature
作者:
Iman Salahshourifar
a
;
b
;
Wan Azman Wan Sulaiman
b
;
Ahmad Sukari Halim
b
;
Bin Alwi Zilfalil
a
;
zilfalil@kb.usm.my
关键词:
Interferon regulatory factor 6 (IRF6)
;
Cleft lip only
;
Non
-
syndromic
oral clefts
;
Mixed
clefting
;
Van der Woude syndrome
刊名:European Journal of Medical Genetics
出版年:2012
3.
GWAS reveals new recessive loci associated with
non
-
syndromic
facial
clefting
作者:
Mauricio Camargo
;
Dora Rivera
;
Lina Moreno
;
Andrew C. Lidral
;
Ursula Harper
;
Marypat Jones
;
Benjamin D. Solomon
;
Erich Roessler
;
Jorge I. V¨¦lez
;
Ariel F. Martinez
;
Settara C. Ch
;
rasekharappa
;
Mauricio Arcos-Burgos
关键词:
Non
-
syndromic
clefting
;
Facial
;
GWAS
;
Recessive loci
;
B3GAT1
;
CSMD1
刊名:European Journal of Medical Genetics
出版年:2012
4.
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and
Syndromic
Optic Fissure Closure Defects
作者:
Kathleen聽A. Williamson
;
Joe Rainger
;
James聽A.B. Floyd
;
Morad Ansari
;
Alison Meynert
;
Kishan聽V. Aldridge
;
Jacqueline聽K. Rainger
;
Carl聽A. Anderson
;
Anthony聽T. Moore
;
Matthew聽E. Hurles
;
Angus Clarke
;
Veronica van聽Heyningen
;
Alain Verloes
;
Martin聽S. Taylor
;
Andrew聽O.M. Wilkie
;
UK10K Consortium
;
David聽R. FitzPatrick
刊名:The American Journal of Human Genetics
出版年:6 February, 2014
5.
Tooth agenesis patterns in unilateral cleft lip and palate in humans
作者:
Theodosia N. Bartzela
a
;
b
;
Carine E.L. Carels
a
;
c
;
Ewald M. Bronkhorst
d
;
Anne Marie Kuijpers- Jagtman
a
;
e
;
orthodontics@dent.umcn.nl
关键词:
AP-2 alpha
;
activating enhancer binding protein 2 alpha
;
BCOR
;
BCL6 corepressor gene
;
C
;
canine
;
CLP
;
cleft lip and palate
;
CBCLP
;
complete bilateral cleft lip and palate
;
CUCLP
;
complete unilateral cleft lip and palate
;
I1
;
central incisor
;
I2
;
lateral i
刊名:Archives of Oral Biology
出版年:2013
6.
Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1
作者:
Julia Hoefele
a
;
julia.hoefele@medizinische-genetik.de
;
Christian Wilhelm
b
;
Monika Schiesser
c
;
Reinhold Mack
d
;
Uwe Heinrich
a
;
Lutz T. Weber
e
;
Saskia Biskup
b
;
Cornelia Daumer-Haas
f
;
Hanns-Georg Klein
a
;
Imma Rost
a
关键词:
FS
;
Fraser syndrome
;
ECM
;
extracellular matrix
;
FFPE
;
formalin fixed paraffin embedded
;
Array-CGH
;
array-based comparative genomic hybridization
;
CAKUT
;
congenital anomalies of the kidney and urinary tract
;
MLPA
;
multiplex ligation-dependent probe amplifi
刊名:Gene
出版年:2013
7.
Whole-blood 3-hydroxyisovalerylcarnitine as a risk factor for orofacial clefts
作者:
Margareta Budner
a
;
Zbigniew Surowiec
a
;
Piotr Fudalej
b
;
Kamil K. Hozyasz
c
;
khozyasz@verco.com.pl
关键词:
Biotin
;
C5OH
;
Neonate
;
Cleft palate
;
Cleft lip
;
MS/MS
刊名:Archives of Oral Biology
出版年:2013
8.
Non
-
syndromic
cleft lip and palate: Could stress be a causal factor?
作者:
Graeme H. Wallace
;
a
;
graemew@bigpond.net.au
;
Jacinta M. Arellano
a
;
Tini M. Gruner
a
关键词:
Cleft lip
;
Cleft palate
;
Stress
;
Oxidative stress
刊名:Women and Birth
出版年:2011
9.
Associated malformations in patients with limb reduction deficiencies
作者:
Claude Stoll
;
Yves Alembik
;
Beatrice Dott
;
Marie-Paule Roth
关键词:
Congenital malformations
;
Limb malformations
;
Limb reduction deficiencies
刊名:European Journal of Medical Genetics
出版年:2010
10.
Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts
作者:
Kamil K. Hozyasz
;
Adrianna Mostowska
;
Piotr Wojcicki
;
Margarita Lianeri
;
Pawel P. Jagodzinski
关键词:
CL/P
;
Arginine
;
Citrulline
;
ASS1
;
ASL
;
SLC25A13
;
Polymorphism
刊名:Archives of Oral Biology
出版年:2010
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