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内部出版物
Wiley电子期刊(17)
NATURE电子期刊(3)
ACS电子期刊(3)
SpringerLink电子期刊(47)
Elsevier电子期刊(70)
在“
SpringerLink电子期刊
”中,
命中:
47
条,耗时:0.0269858 秒
在所有数据库中总计命中:
140
条
1.
Mutations in chromatin regulators functionally link
Cornelia
de
Lange
syndrome
and clinically overlapping phenotypes
作者:
Ilaria Parenti
;
María E. Teresa-Rodrigo
;
Jelena Pozojevic
;
Sara Ruiz Gil…
刊名:Human Genetics
出版年:2017
2.
Neuroimaging features of
Cornelia
de
Lange
syndrome
作者:
Matthew T. Whitehead
;
Usha D. Nagaraj
;
Phillip L. Pearl
关键词:
Cornelia
de
Lange
syndrome
;
Brachmann
de
Lange
syndrome
;
Clivus
;
Skull base
;
Fenestration
;
Anterior segment
;
Hypoplasia
;
Micrencephaly
;
Segmentation
;
Children
;
Magnetic resonance imaging
刊名:Pediatric Radiology
出版年:2015
3.
Brachmann-
Cornelia
de
Lange
syndrome
with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study
作者:
Fernando Chico-Ponce
de
León
;
Luis F. Gordillo-Domínguez…
关键词:
Brachmann
;
Cornelia
de
Lange
syndrome
;
Choroid plexus papilloma
;
ALOX15
;
MYBBP1A
刊名:Child's Nervous System
出版年:2015
4.
Unpredictable drug reaction in a child with
Cornelia
de
Lange
syndrome
作者:
Marija Stevic (1)
Irina Milojevic (1)
Zlatko Bokun (2)
Dusica Simic (3)
关键词:
Anesthesia
;
Child
;
Cornelia
de
Lange
syndrome
;
Adverse drug reaction
;
Predictability
刊名:Pharmacy World Science
出版年:2015
5.
Face scanning and spontaneous emotion preference in
Cornelia
de
Lange
syndrome
and Rubinstein-Taybi
syndrome
作者:
Hayley Crawford
;
Joanna Moss
;
Joseph P. McCleery…
关键词:
Cornelia
de
Lange
syndrome
;
Rubinstein
;
Taybi
syndrome
;
Eye
;
tracking
;
Emotion preference
;
Eye gaze
刊名:Journal of Neuro
de
velopmental Disor
de
rs
出版年:2015
6.
Cornelia
de
Lange
Syndrome
: A Variable Disor
de
r of Cohesin Pathology
作者:
Antonie D. Kline
;
Matthew A.
De
ardorff
关键词:
Cornelia
de
Lange
syndrome
;
Cohesin
;
Cohesinopathy
;
Dysmorphic
;
Multiple congenital anomalies
;
Intellectual disability
刊名:Current Genetic Medicine Reports
出版年:2015
7.
Visual preference for social stimuli in individuals with autism or neuro
de
velopmental disor
de
rs: an eye-tracking study
作者:
Hayley Crawford
;
Joanna Moss
;
Chris Oliver
;
Natasha Elliott…
关键词:
Autism spectrum disor
de
r
;
Fragile X
syndrome
;
Cornelia
de
Lange
syndrome
;
Rubinstein
;
Taybi
syndrome
;
Social attention
;
Eye
;
tracking
刊名:Molecular Autism
出版年:2016
8.
Ophthalmologische Manifestationen
de
s
Cornelia
-
de
-
Lange
-Syndroms
作者:
Dr. G. Avgitidou
;
C. Cursiefen
;
L.M. Heindl
关键词:
Nasolakrimale Obstruktion
;
Tr?nenwegsstenose
;
Therapie
;
Tr?nenwegsspülung
;
Fehlbildungen
;
Nasolacrimal duct obstruction
;
Lacrimal duct stenosis
;
Therapy
;
Lacrimal duct irrigation
;
Malformations
刊名:
De
r Ophthalmologe
出版年:2015
9.
Mutational Screening and Prenatal Diagnosis in
Cornelia
de
Lange
syndrome
作者:
Usha Dave (1)
Dhanlaxmi Shetty (2)
关键词:
Cornelia
de
Lange
syndrome
;
Prenatal diagnosis
;
Mental retardation
刊名:The Journal of Obstetrics and Gynecology of India
出版年:2014
10.
An interstitial
de
letion at 8q23.1-q24.12 associated with
Lange
r-Giedion
syndrome
/ Trichorhinopha
lange
al
syndrome
(TRPS) type II and
Cornelia
de
Lange
syndrome
4
作者:
Nikoletta Selenti
;
Maria Tzetis
;
Maria Braoudaki…
刊名:Molecular Cytogenetics
出版年:2015
1
2
3
4
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