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CNKI学位论文(35)
知网期刊论文(14)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:0.020989 秒
在所有数据库中总计命中:
49
条
1.
De novo
microdeletion
s of chromosome
6q14
.1-
q14
.3 and
6q1
2.1-
q14
.1 in two patients with intellectual disability - further delineation of the
6q14
microdeletion
syndrome
and review of the literature
作者:
Kerstin Becker
;
Nataliya Di Donato
;
Muriel Holder-Espinasse
;
Joris Andrieux
;
Jean-Marie Cuisset
;
Louis Vall¨¦e
;
Ghislaine Plessis
;
Nolwenn Jean
;
Bruno Delobel
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Kirstine Ravn
;
Zeynep T¨¹mer
;
Sigrid Tinschert
;
Evelin Schrock
;
Aia Elise J?nch
;
Karl Hackmann
关键词:
6q14
microdeletion
syndrome
;
Intellectual disability
;
Mental retardation
;
Array CGH
刊名:European Journal of Medical Genetics
出版年:2012
2.
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype-phenotype correlation
作者:
Maria Piccione
a
;
piccionemaria@libero.it
;
Ettore Piro
a
;
1
;
ettore.piro@unipa.it
;
Francesca Serraino
a
;
1
;
fraserraino@hotmail.com
;
Simona Cavani
b
;
2
;
simona.cavani@galliera.it
;
Roberto Ciccone
c
;
3
;
roberto.ciccone@unipv.it
;
Michela Malacarne
b
;
2
;
michela.malacarne@galliera.it
;
Mauro Pierluigi
b
;
2
;
mauro.pierluigi@galliera.it
;
Marianna Vitaloni
c
;
3
;
marianna.vitaloni@unipv.it
;
Orsetta Zuffardi
c
;
3
;
zuffardi@unipv.it
;
Giovanni Corsello
a
;
4
;
giocors@aliceposta.it
关键词:
Array CGH
;
Developmental delay
;
Dysmorphic features
;
Microdeletion
2p15p16.1
syndrome
刊名:European Journal of Medical Genetics
出版年:2012
3.
Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia
作者:
Hsiao-Mei Liao
;
Yu-Lin Chao
;
Ai-Ling Huang
;
Min-Chih Cheng
;
Yann-Jang Chen
;
Kuei-Fang Lee
;
Jye-Siung Fang
;
Chih-Hao Hsu
;
Chia-Hsiang Chen
关键词:
Schizophrenia
;
Copy number variation
;
Genetics
;
Deletion
;
Duplication
;
Rearrangement
刊名:Schizophrenia Research
出版年:2012
1
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