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Springer电子图书(2)
NATURE电子期刊(2)
ACS电子期刊(1)
SpringerLink电子期刊(23)
Elsevier电子期刊(46)
在“
Elsevier电子期刊
”中,
命中:
46
条,耗时:0.0469738 秒
在所有数据库中总计命中:
74
条
1.
AccuCopy quantification combined with pre-amplification of long-distance PCR for fast analysis of intron 22 inversion in haemophilia A
作者:
Qianlan Ding
a
;
Xi Wu
a
;
Yeling Lu
a
;
Changming Chen
b
;
Rui Shen
c
;
Xi Zhang
c
;
Zhengwen Jiang
c
;
zhengwenj@geneskies.com" class="auth_mail" title="E-mail the corresponding author
;
Xuefeng Wang
a
;
wangxuefeng6336@hotmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
HA
;
haemophilia A
;
F8
;
factor VIII gene
;
Inv22
;
intron 22 inversion
;
LD-PCR
;
long-distance-PCR
;
IS-PCR
;
inverse shifting-PCR
;
Del22
;
int22h-mediated
del
etion
;
Dup22
;
int22h-mediated duplication
;
PLP
;
pre-amplification of LD-PCR
;
AQ-PLP
;
AccuCopy quantification combined with pre-amplification of long-distance PCR
;
CNV
;
copy number variation
;
LOD
;
limit of detection
刊名:Clinica Chimica Acta
出版年:2016
2.
Low marginal zone-like B lymphocytes and natural antibodies characterize skewed B-lymphocyte subpopulations in
del22
q11 DiGeorge patients
作者:
Adam Klocperk
a
;
adam.klocperk@fnmotol.cz" class="auth_mail" title="E-mail the corresponding author
;
Ester Mejstří
;
ková
;
b
;
Jana Kayserová
;
a
;
Tomá
;
&scaron
;
Kalina
b
;
Anna &Scaron
;
edivá
;
a
关键词:
B-cells
;
DiGeorge
;
BAFF
;
Marginal zone
;
Naï
;
ve
;
Switched
刊名:Clinical Immunology
出版年:2015
3.
Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease
作者:
Candy Sue Má
;
rquez-Á
;
vila
a
;
candymarqueza@prodigy.net.mx" class="auth_mail" title="E-mail the corresponding author
;
Alfredo Vizcaí
;
no-Alarcó
;
n
b
;
avizca34@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Constanza Garcí
;
a-
Del
gado
c
;
constanzagarcia
del
gado@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Paulina Marí
;
a Nú
;
ñ
;
ez-Martí
;
nez
c
;
pau_nunez@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Francisco Flores-Ramí
;
rez
c
;
franciscofloresramirez49@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Alejandra
del
Pilar Reyes-de la Rosa
c
;
areyes
del
arosa@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Paola Men
del
sberg-Fishbein
c
;
paola_m84@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Diana Ibarra-Grajeda
a
;
dig79@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Patricia Medina-Bravo
d
;
drapatty_75@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Norma Balderrá
;
bano-Saucedo
b
;
balderrabano_6@yahoo.es" class="auth_mail" title="E-mail the corresponding author
;
Salvador Esteva-Solsona
d
;
esteva.endocrino@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Luz
del
Carmen Má
;
rquez-Quiró
;
z
c
;
marquezquiroz@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
;
Arturo Flores-Cuevas
c
;
arturocuevas_14@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Rocí
;
o Sá
;
nchez-Urbina
c
;
rs_urbina@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
;
Ariadna Berenice Morales-Jimé
;
nez
c
;
ariadnamorales@ciencias.unam.mx" class="auth_mail" title="E-mail the corresponding author
;
Nayely Garibay-Nieto
d
;
gngaribay@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Jesú
;
s
Del
Bosque-Garza
e
;
drjesus
del
bosque@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Dino Pietropaolo-Cienfuegos
f
;
dpietro4@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Claudia Gutié
;
rrez-Camacho
g
;
claudia.g.cam@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Leticia Garcí
;
a-Morales
d
;
letygarcia17@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
;
Veró
;
nica Fabiola Morá
;
n-Barroso
c
;
vfmoran@himfg.edu.mx" class="auth_mail" title="E-mail the corresponding author
;
veronicafabiolamoranbarroso@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
关键词:
VCFS
;
velocardiofacial syndrome
;
CHD
;
congenital heart defect
;
FISH
;
fluorescence in situ hybridization
;
MLPA
;
multiplex ligation-dependent probe amplification
;
aCGH
;
array-based comparative genomic hybridization
;
LCR
;
low copy repeats
;
CTD
;
conotruncal defects
;
TF
;
Tetralogy of Fallot
;
PA
;
pulmonary atresia
;
PS
;
pulmonary stenosis
;
TA
;
Truncus arteriosus
;
IAA
;
interrupted aortic arch
;
VSD
;
ventricular septal defect
;
AAA
;
aortic arch anomalies
;
GH
;
growth hormone
;
OSCP
;
occult submucous cleft pa
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2015
4.
Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852
del22
mutation false-positivity by line probe assay
作者:
GianMaria Miolo
;
Marina Crovatto
;
Massimo Manno
;
Barbara Pivetta
;
Giovanni Tessitori
;
Luigi Picci
关键词:
CFTR gene
;
852
del22
mutation
;
line probe assay
刊名:Fertility and Sterility
出版年:2011
5.
Congenital stridor and wheezing as harbingers of the
del22
q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum
作者:
Meng-Luen Lee
a
;
b
;
ferdielee@yahoo.com
;
Ming Chen
b
;
c
;
Lon-Yen Tsao
d
;
Han-Yao Chiu
e
;
Ing-Sh Chiu
f
;
Albert D. Yang
g
;
Pei-Ling Tsai
g
关键词:
Vascular ring
;
Kommerell's diverticulum
;
Stridor
;
Wheezing
;
Del22
q11.2 syndrome
刊名:Cardiovascular Pathology
出版年:2011
6.
The internet is parents' main source of information about psychiatric manifestations of 22q11.2
del
etion syndrome (22q11.2DS)
作者:
Marianne B.M. van den Bree
;
Gregory Miller
;
Elizabeth Mansell
;
Anita Thapar
;
Frances Flinter
;
Michael J. Owen
关键词:
22q11.2
del
etion syndrome
;
22q11.2DS
;
Velo-Cardio-Facial syndrome
;
Parental awareness
;
Physical manifestations
;
Psychiatric manifestations
刊名:European Journal of Medical Genetics
出版年:2013
7.
Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects
作者:
David J. Margolis
;
MD
;
PhD
a
;
b
;
&lowast
;
;
margo@upenn.edu" class="auth_mail
;
Jayanta Gupta
;
MD
;
PhD
a
;
&lowast
;
;
Andrea J. Apter
;
MD
;
MSc
c
;
Tapan Ganguly
;
PhD
d
;
Ole Hoffstad
;
MA
a
;
Maryte Papadopoulos
;
MBE
a
;
Tim R. Rebbeck
;
PhD
a
;
Nandita Mitra
;
PhD
a
关键词:
Atopic dermatitis
;
filaggrin
;
epidemiology
;
genetic epidemiology
;
atopy
刊名:Journal of Allergy and Clinical Immunology
出版年:March, 2014
8.
Mirror-image type D interrupted aortic arch: A novel cardiac phenotype providing some perspective in the
del22
q11.2 syndrome
作者:
Meng-Luen Lee
;
Ming Chen
;
Albert D. Yang
;
Ing-Sh Chiu
关键词:
Multidetector computer tomography
;
Mirror-image
;
Type D interrupted aortic arch
;
Conotruncal ventricular septal defect
;
Biventricular Norwood procedure
;
Fluorescence in situ hybridization
;
del22
q11.2 syndrome
刊名:International Journal of Cardiology
出版年:2010
9.
Palate abnormalities in Chilean patients with chromosome 22q11 micro
del
etion syndrome
作者:
Guillermo Lay-Son
a
;
b
;
c
;
Mirta Palomares
c
;
d
;
M. Luisa Guzman
a
;
Marcos Vasquez
a
;
Alonso Puga
a
;
Gabriela M. Repetto
a
;
c
;
grepetto@udd.cl
关键词:
DiGeorge syndrome
;
Velocardiofacial syndrome
;
Palate
;
Cleft palate
;
Velopharyngeal insufficiency
;
22q11
del
etion
刊名:International Journal of Pediatric Otorhinolaryngology
出版年:2012
10.
Adolescente con s¨ªndrome de
del
eci¨®n 22q11.2 y endocrinopat¨ªa m¨²ltiple
作者:
J. Guerrero Ferná
;
ndez
a
;
jguerrerof@yahoo.es
;
C. Labrandero de Lera
b
;
I. Gonzá
;
lez Casado
a
;
R. Gracia Bouthelier
a
关键词:
Del
eció
;
n 22q11.2
;
Sí
;
ndrome de DiGeorge
;
Diabetes mellitus tipo 1
;
Facies asimé
;
trica con el llanto
;
Manifestaciones endocrinoló
;
gicas
刊名:Anales de Pediatr¨ªa
出版年:2011
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