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内部出版物
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
1.
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with
GLIALCAM
mutations
作者:
Tanit Arnedo (1) (2)
Chiara Aiello (3)
Elena Jeworutzki (4)
Maria Lisa Dentici (3)
Graziella Uziel (5)
Alessandro Simonati (6)
Michael Pusch (4)
Enrico Bertini (3)
Raúl Estévez (1) (2)
关键词:
Leukodystrophy
;
MLC
;
MLC1
;
GLIALCAM
;
ClC
2 ;
Remitting phenotype
刊名:neurogenetics
出版年:2014
2.
Identification and characterization of the zebrafish ClC-2 chloride channel orthologs
作者:
Carla Pérez-Rius
;
Héctor Gaitán-Pe?as…
关键词:
ClC
;
2 Cl?channel
;
In situ hybridization
;
Xenopus oocyte
;
Genome duplication
;
Zebrafish
;
GlialCAM
刊名:Pfl篓鹿gers Archiv - European Journal of Physiology
出版年:2015
3.
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not
GLIALCAM
, genetic screening
作者:
Maria Marchese (1)
Valerio Conti (2)
Giulia Valvo (3)
Francesca Moro (1)
Filippo Muratori (4)
Raffaella Tancredi (4)
Filippo M Santorelli (1)
Renzo Guerrini (2) (3)
Federico Sicca (3)
关键词:
Autism spectrum disorders
;
Autism
;
epilepsy phenotype
;
Macrocephaly
;
GLIALCAM
;
PTEN
刊名:BMC Medical Genetics
出版年:2014
1
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