设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
SpringerLink电子期刊(10)
Elsevier电子期刊(16)
ACS电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
16
条,耗时:小于0.01 秒
在所有数据库中总计命中:
29
条
1.
A simplified approach for FSHD molecular testing
作者:
Frantzeskos Papanikos
;
Christina Skoulatou
;
Paraskevi Sakellariou
;
Kyriaki Kekou
;
Theodore K. Christopoulos
;
Emmanuel
Kanavakis
;
Jan Traeger-Synodinos
;
Penelope C. Ioannou
关键词:
FSHD
;
Biomarkers
;
Molecular testing
刊名:Clinica Chimica Acta
出版年:15 February, 2014
2.
Corrigendum to 鈥淪creening of UBE3A gene in patients referred for Angelman Syndrome鈥?[Eur J Paediatr Neurol 17 (4) (2013) 366-373]
作者:
Evmorfia Tzagkaraki
;
Christalena Sofocleous
;
Helen Fryssira-Kanioura
;
Argyris Dinopoulos
;
Georgios Goulielmos
;
Ariadni Mavrou
;
Sofia Kitsiou-Tzeli
;
Emmanuel
Kanavakis
刊名:European Journal of Paediatric Neurology
出版年:November, 2013
3.
MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders
作者:
Stavroula Psoni
;
Christalena Sofocleous
;
Joanne Traeger-Synodinos
;
Sophia Kitsiou-Tzeli
;
Emmanuel
Kanavakis
;
Helen Fryssira-Kanioura
;
efrysira@med.uoa.gr
关键词:
MECP2
;
Rett syndrome
;
Mental retardation
刊名:Brain and Development
出版年:2012
4.
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome
作者:
Flora Tzifi MD
;
MCS
a
;
fltzifi@med.uoa.gr"" rel=""nofollow
;
Roser Pons MD
;
PhD
a
;
Corina Athanassaki MD
;
PhD
a
;
Myrto Poulou PhD
b
;
Emmanuel
Kanavakis
MD
;
PhD
b
刊名:Pediatric Neurology
出版年:2011
5.
Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes—Their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients
作者:
Athanasios Papatheodorou
;
Periklis Makrythanasis
;
Marios Kaliakatsos
;
Aikaterini Dimakou
;
Dora Orfanidou
;
Charis Roussos
;
Emmanuel
Kanavakis
;
Maria Tzetis
关键词:
SERPINA1 ADRB2
;
Chronic Obstructive Pulmonary Disease
;
Disseminated Bronchiectasis
;
haplotypes
;
SNPs
刊名:Clinical Biochemistry
出版年:2010
6.
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder
作者:
Stavroula Psoni
;
Patrick J. Willems
;
Emmanuel
Kanavakis
;
Ariadne Mavrou
;
Helen Frissyra
;
Joanne Traeger-Synodinos
;
Christalena Sofokleous
;
Periklis Makrythanassis
;
Sophia Kitsiou-Tzeli
关键词:
CDKL5
;
Seizures
;
Late-onset
;
Last exon
刊名:European Journal of Paediatric Neurology
出版年:2010
7.
Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses
作者:
Athanasios K. Anagnostopoulos
;
Aggeliki Kolialexi
;
Ariadni Mavrou
;
Konstantinos Vougas
;
Nikos Papantoniou
;
Aris Antsaklis
;
Emmanuel
Kanavakis
;
Michael Fountoulakis
;
George Th. Tsangaris
关键词:
Proteomics
;
Amniotic fluid
;
Klinefelter syndrome
;
Prenatal diagnosis
;
Pregnancy
刊名:Journal of Proteomics
出版年:2010
8.
Multianalyte, dipstick-type, nanoparticle-based DNA biosensor for visual genotyping of single-nucleotide polymorphisms
作者:
Ioannis K. Litos
;
Penelope C. Ioannou
;
Theodore K. Christopoulos
;
Jan Traeger-Synodinos
;
Emmanuel
Kanavakis
关键词:
DNA biosensor
;
Dipstick
;
Multianalyte
;
Nanoparticles
;
Genotyping
;
Single-nucleotide polymorphisms
刊名:Biosensors and Bioelectronics
出版年:2009
9.
A Clinical Study of Sotos Syndrome Patients With Review of the Literature
作者:
George Leventopoulos
;
Sophia Kitsiou-Tzeli
;
Konstantinos Kritikos
;
Stavroula Psoni
;
Ariadni Mavrou
;
Emmanuel
Kanavakis
;
Helen Fryssira
刊名:Pediatric Neurology
出版年:2009
10.
Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH
作者:
Sofia Kitsiou-Tzeli
;
Carolina Sismani
;
George Koumbaris
;
Marios Ioannides
;
Emmanuel
Kanavakis
;
Angeliki Kolialexi
;
Ariadni Mavrou
;
Vasiliki Touliatou
;
Philippos C. Patsalis
关键词:
Distal 4q deletion syndrome
;
Array-CGH
;
Phenotype-genotype correlation
;
Cytogenetic aberration
刊名:European Journal of Medical Genetics
出版年:2008
1
2
按检索点细分(16)
作者(16)
按出版年细分(16)
2027年及以后(1)
2012年(1)
2011年(1)
2010年(3)
2009年(2)
2008年(2)
2007年(1)
2005年(1)
2004年(1)
2000年及以前(3)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.