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内部出版物
Springer电子图书(3)
在“
SpringerLink电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
作者:
Florence Riant (1) (2) (3) (4)
Michaelle Cecillon (1)
Pascale
Saugier
-
Veber
(5) (6)
Elisabeth Tournier-Lasserve (1) (2) (3) (4)
关键词:
Cerebral cavernous malformations
;
CCM
;
KRIT1
;
MGC4607
;
PDCD10
;
Unclassified variants
刊名:neurogenetics
出版年:2013
2.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases
作者:
Homa Adle-Biassette
;
Pascale
Saugier
-
Veber
…
关键词:X ;
linked hydrocephalus
;
Foetal neuropathology
;
L1CAM genetic testing
;
Differential diagnosis
;
L1
;
like syndrome
刊名:Acta Neuropathologica
出版年:2013
3.
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome
作者:
Sylvie Tordjman (1) (2)
George M Anderson (3)
David Cohen (4)
Solenn Kermarrec (1)
Michèle Carlier (5)
Yvan Touitou (6)
Pascale
Saugier
-
Veber
(7)
Céline Lagneaux (8)
Claire Chevreuil (1)
Alain Verloes (8) (9)
关键词:
7q11.23
;
Autistic disorder
;
Serotonin
;
Gene–environment interactions
;
Gene–phenotype correlations
;
Genetic background
刊名:Molecular Autism
出版年:2013
4.
Human lissencephaly with cerebellar hypoplasia due to mutations in
TUBA1A
: expansion of the foetal neuropathological phenotype
作者:
Magalie Lecourtois
;
Karine Poirier
;
Ga?lle Friocourt
;
Xavier Jaglin
;
Alice Goldenberg
;
Pascale
Saugier
-
Veber
;
Jamel Chelly and Annie Laquerri¨¨re
关键词:
Type 1 lissencephaly
;
Neuronal migration
;
Neuronal differentiation
;
Axonal pathfinding disorder
;
TUBA1A
刊名:Acta Neuropathologica
出版年:2010
5.
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
作者:
Claude Bendavid
;
Christèle Dubourg
;
Isabelle Gicquel
;
Laurent Pasquier
;
Pascale
Saugier
-
Veber
;
Marie-Renée Durou
;
Sylvie Jaillard
;
Thierry Frébourg
;
Bassem R. Haddad and Catherine Henry
;
et al.
刊名:Human Genetics
出版年:2006
6.
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes
作者:
Claude Bendavid
;
Christ¨¨le Dubourg
;
Isabelle Gicquel
;
Laurent Pasquier
;
Pascale
Saugier
-
Veber
;
Marie-Ren¨¦e Durou
;
Sylvie Jaillard
;
Thierry Fr¨¦bourg
;
Bassem R. Haddad and Catherine Henry
;
et al.
刊名:Human Genetics
出版年:2006
1
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