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内部出版物
SpringerLink电子期刊(4)
Elsevier电子期刊(8)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:小于0.01 秒
在所有数据库中总计命中:
12
条
1.
Post-zygotic breakage of a
d
icentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with
d
evelopmental
d
elay
作者:
C.R.J. Pe
d
urupillay
;
D
.
Misceo
;
T.H. Gamage
;
V.H.W.
D
issanayake
;
E. Frengen
关键词:
aCGH
;
Array comparative genomic hybri
d
ization
;
BAC
;
Bacterial artificial chromosome
;
CER1
;
Cerberus 1
;
Chr9
;
Chromosome 9
;
CT
;
Computerize
d
tomography
;
D
MRT 1
23 ;
D
oublesex an
d
Mab.3 relate
d
transcription factor -1
;
-2 an
d
-3
;
D
OCK8
;
D
e
d
icator of cytokinesis 8
;
FISH
;
Fluorescence in situ hybri
d
ization
;
FOX
D
4
;
Forkhea
d
box D4
;
FREM1
;
FRAS1 relate
d
extracellular matrix 1
;
inv
d
up
d
el
;
Inverte
d
d
uplication an
d
a terminal
d
eletion
;
LCR
;
Low copy repeats
;
NAHR
;
Non-allelic homologous recombination
刊名:Gene
出版年:1 January, 2014
2.
A balance
d
d
e novo inv(7)(p14.3q22.3)
d
isrupting PDE1C an
d
ATXN7L1 in a 14-year ol
d
d
evelopmentally
d
elaye
d
boy
作者:
Thilini H. Gamage
;
D
oriana
Misceo
;
Ma
d
eleine Fannemel
;
Eirik Frengen
关键词:
D
evelopmental
d
isor
d
er
;
Inversion (7)(p14.3q22.3)
;
ATXN7L1
;
P
D
E1C
;
NHEJ
;
TTTAAA motif
刊名:European Journal of Me
d
ical Genetics
出版年:2013
3.
1.5 Mb
d
eletion of chromosome 4p16.3 associate
d
with postnatal growth
d
elay, psychomotor impairment, epilepsy, impulsive behavior an
d
asynchronous skeletal
d
evelopment
作者:
D
.
Misceo
;
T. Bar?y
;
J.R. Helle
;
?. Braaten
;
M. Fannemel
;
E. Frengen
关键词:
aCGH
;
Array comparative genomic hybri
d
ization
;
CNV
;
Copy Number Variation
;
CPLX
;
Complexin-1
;
CTBP1
;
C-terminal bin
d
ing protein 1
;
D
CE
;
d
ifficult to control epilepsy
;
D
GKQ
;
D
iacylglycerol kinase
;
theta
;
EEG
;
Electroencephalography
;
FGFRL1
;
fibroblast grow
刊名:Gene
出版年:2012
4.
A
d
e novo 15q13.2q13.3
d
eletion in a boy with an Angelman syn
d
rome like phenotype
作者:
Tuva Barø
y ;
D
oriana
Misceo
;
d
8
;
ivin
d
Braaten
;
Johan R. Helle
;
Ma
d
eleine Fannemel
;
Petter Strø
;
mme
;
Eirik Frengen
关键词:
Angelman syn
d
rome like phenotype
;
Mental retar
d
ation
;
15q13
d
eletion
;
aCGH
刊名:European Journal of Me
d
ical Genetics
出版年:2010
5.
Evolutionary history of chromosome 11 featuring four
d
istinct centromere repositioning events in Catarrhini
作者:
Maria Francesca Car
d
one
;
Mariana Lomiento
;
Maria Grazia Teti
;
D
oriana
Misceo
;
Roberta Roberto
;
Oronzo Capozzi
;
Pietro
D
'A
dd
abbo
;
Mario Ventura
;
Mariano Rocchi
;
Nicoletta Archi
d
iacono
关键词:
Chromosome 11
;
Primate evolution
;
Centromere repositioning
;
Segmental
d
uplications
刊名:Genomics
出版年:2007
6.
Evolutionary movement of centromeres in horse,
d
onkey, an
d
zebra
作者:
Lucia Carbone
;
Solomon G. Nerga
d
ze
;
Elisa Magnani
;
D
oriana
Misceo
;
Maria Francesca Car
d
one
;
Roberta Roberto
;
Livia Bertoni
;
Carmen Attolini
;
Maria Francesca Piras
;
Pieter
d
e Jong
et al.
关键词:
Centromere repositioning
;
Centromere
;
D
onkey
;
Horse
;
Evolution
刊名:Genomics
出版年:2006
7.
O14: Evolutionary centromere repositioning
作者:
Mario Ventura
;
Maria F. Car
d
one
;
Francesca Antonacci
;
D
oriana
Misceo
;
Pietro
D
. A
dd
abbo
;
Nicoletta Archi
d
iacono
;
Mariano Rocchi
刊名:European Journal of Me
d
ical Genetics
出版年:2005
8.
Human-Specific
D
uplication an
d
Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22
作者:
Jeffrey A. Bailey
;
Amy M. Yavor
;
Luigi Viggiano
;
D
oriana
Misceo
;
Juliann E. Horvath
;
Nicoletta Archi
d
iacono
;
Stuart Schwartz
;
Mariano Rocchi
;
Evan E. Eichler
刊名:The American Journal of Human Genetics
出版年:2002
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2013年(1)
2012年(1)
2010年(1)
2007年(1)
2006年(1)
2005年(1)
2002年(1)
2000年及以前(1)
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