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内部出版物
SpringerLink电子期刊(1)
Elsevier电子期刊(2)
在“
Elsevier电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case
作者:
Pietro Palumbo
;
Vincenzo Antona
;
Orazio Palumbo
;
Maria Piccione
;
Rosaria
Nardello
;
Antonina Fontana
;
Massimo Carella
;
Giovanni Corsello
关键词:
ACACA
;
Acetyl-CoA Carboxylase Alpha
;
ADHD
;
Attention Deficit Hyperactivity Disorder
;
ASD
;
Autism Spectrum Disorders
;
CNTNAP2
;
Contactin associated protein-like 2
;
CNV
;
Copy Number Variation
;
DNA
;
Deoxyribonucleic Acid
;
FOXP2
;
Forkhead box P2
;
HNF1B
;
Hepatocyte Nuclear Factor 1 Beta
;
ID
;
Intellectual disability
;
LCRs
;
Low Copy Repeats
;
LHX1
;
LIM homeobox 1 LIM homeobox 1
;
MET
;
Met proto-oncogene
;
MODY5
;
Maturity Onset Diabetes of the Young type 5
;
MRKH
;
Mayer-Rokitansky-Kü
;
ster-Hauser-Syndrom
刊名:Gene
出版年:1 April, 2014
2.
Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome
作者:
Nicola Specchio
;
Martina Balestri
;
Pasquale Striano
;
Maria Roberta Cilio
;
Rosaria
Nardello
;
Santina Patanè
;
Maria Luisa Margiotta
;
Giuseppe D’
;
Orsi
;
Salvatore Striano
;
Silvia Russo
;
Luigi M
关键词:
Rett syndrome
;
Levetiracetam
;
Drug-resistance
;
EEG
;
Focal seizures
;
Myoclonic seizures
刊名:Epilepsy Research
出版年:2010
1
按检索点细分(2)
作者(2)
按出版年细分(2)
2010年(1)
2000年及以前(1)
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