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内部出版物
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
1.
Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation
作者:
Hela Ben Khelifa
;
Najla
Soyah
;
Inesse Ben-Abdallah-Bouhjar
;
Ryma Gritly
;
Damien Sanlaville
;
Hatem Elghezal
;
Ali Saad
;
Soumaya Mougou-Zerelli
关键词:
ADHD
;
attention deficit-hyperactivity disorder
;
CGH array
;
comparative genomic hybridization
;
CNV
;
copy number variation
;
DAPI
;
4
;
6 diamino-2-phenylindole
;
FISH
;
fluorescence in situ hybridization
;
FMR1
;
fragile X mental retardation 1
;
HDHD1A
;
haloacid de
刊名:Gene
出版年:2013
2.
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia
作者:
Inesse Ben-Abdallah-Bouhjar
;
Hanene Hannachi
;
Audrey Labalme
;
Abir Gmid¨¨ne
;
Soumaya Mougou
;
Najla
Soyah
;
Moez Gribaa
;
Damien Sanlaville
;
Hatem Elghezal
;
Ali Saad
关键词:
Array-CGH
;
FISH
;
Hypotonia
;
PCR
;
Intellectuel disability
;
Xq27-qter functional disomy
;
Deletion 3p26.3
刊名:European Journal of Medical Genetics
出版年:2012
3.
Chromosomal Microarray Analysis in a Girl With Mental Retardation and Spina Bifida
作者:
Inesse Ben Abdallah
;
Hanene Hannachi
;
Najla
Soyah
;
Ali Saad
;
Hatem Elghezal
刊名:Pediatric Neurology
出版年:2011
4.
Rituximab in subacute sclerosing panencephalitis, Titomanlio et al., 2007;11:43–5
作者:
Luigi Titomanlio
;
Ghislaine Sterkers
;
Valé
;
rie Guerin
;
Najla
Soyah
;
Catherine Delanoe
;
Philippe Evrard
;
Isabelle Husson
关键词:
Fatigue
;
Heteroplasmy
;
MERRF
;
Mitochondrial disease
;
Resting muscle pain
刊名:European Journal of Paediatric Neurology
出版年:2007
5.
Rituximab in subacute sclerosing panencephalitis
作者:
Luigi Titomanlio
;
Najla
Soyah
;
Valé
;
rie Guerin
;
Catherine Delanoe
;
Ghislaine Sterkers
;
Philippe Evrard
;
Isabelle Husson
关键词:
Encephalitis
;
Measles
;
Vaccination
;
Rituximab
刊名:European Journal of Paediatric Neurology
出版年:2007
1
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