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内部出版物
CNKI学位论文(5)
知网期刊论文(4)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.030956 秒
在所有数据库中总计命中:
9
条
1.
Chromosome
17q21
.
31
duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum
作者:
Federica Natacci
a
;
Enrico Alfei
b
;
enrico.alfei@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author
;
Lucia Tararà
;
b
;
Stefano D'Arrigo
b
;
Orsetta Zuffardi
c
;
Barbara Gentilin
a
;
Chiara Pantaleoni
b
关键词:
Psychomotor delay
;
Intellectual disability
;
Autism spectrum disorder
;
17q21
.
31
microduplication
;
Genetic syndrome
;
KANSL1
刊名:European Journal of Paediatric Neurology
出版年:2016
2.
Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing
作者:
Gheona Altarescu
a
;
d
;
gheona@szmc.org.il" class="auth_mail" title="E-mail the corresponding author
Author Vitae
;
Rachel Beeri
a
;
d
;
Galit Lazer-Derbeko
a
;
d
;
Talia Eldar-Geva
b
;
d
;
Avraham Steinberg
c
;
d
;
Ephrat Levy-Lahad
a
;
d
;
Paul Renbaum
a
关键词:
chromosomal microarrays
;
PGD
;
risk reduction
;
variants of unknown significance (VUS)
;
whole exome sequencing
刊名:Reproductive BioMedicine Online
出版年:2015
3.
Microdeletion and
microduplication
17q21
.
31
plus an additional CNV, in patients with intellectual disability, identified by array-CGH
作者:
Sophia Kitsiou-Tzeli
a
;
Helen Frysira
a
;
Krinio Giannikou
a
;
b
;
Areti Syrmou
a
;
Konstantina Kosma
a
;
Georgia Kakourou
a
;
Eleni Leze
a
;
Christalena Sofocleous
a
;
Emmanuel Kanavakis
a
;
Maria Tzetis
a
;
mtzetis@med.uoa.gr
关键词:
CGH
;
Comparative genome hybridization
;
CNV
;
Copy number variation
;
aCGH
;
Array comparative genome hybridization
;
ID
;
Intellectual disability
;
DD
;
Developmental delay
;
PCR
;
Polymerase chain reaction
;
PWACR
;
Prader&ndash
;
Willi/Angelman Critical Region
;
MSPC
刊名:Gene
出版年:2012
4.
A
17q21
.
31
microduplication
, reciprocal to the newly described
17q21
.
31
microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
作者:
Maria Kirchhoff
;
Anne-Marie Bisgaard
;
Morten Duno
;
Flemming Juul Hansen
;
Marianne Schwartz
关键词:
17q21
.
31
microduplication
;
MAPT
;
CRHR1
;
Syndrome
;
244k Agilent oligoarray
刊名:European Journal of Medical Genetics
出版年:2007
5.
Syndromes chromosomiques émergents
作者:
C. Schluth-Bolard
;
M. Till
;
P. Edery
;
D. Sanlaville
关键词:
Mental retardation
;
Microdeletions
;
Microduplication
s
;
Array CGH
刊名:Pathologie Biologie
出版年:2008
1
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