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48篇 您的检索式:作者名="Depienne"
    题名 作者 年代 出处 被引量
1Familial cortical myoclonic tremor with epilepsy:the third locus (FCMTE3) maps to 5p显示文摘Depienne C Magnin E Bouteiller D 2010Neurology2010,74,24:1
2Familial cortical my-oclonic tremor with epilepsy : the third locus (FCMTE3 ) maps to5p显示文摘Depienne C Magnin E Bouteiller D 2010Neurology2010,74,24:1
3Familial cortical myoclonic tremor with epilepsy : the third locus ( FCMTE3 ) maps to 5p 显示文摘Depienne C Magnin E Bouteilier D 2010Neurology2010,74,:1
4Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p显示文摘Depienne C Magnin E Bouteiller D 2010Neurology2010,4,24:1
5Parental mo-saicism can cause recurrent transmission of SCNIA mutations associated with severe myoclonic epilepsy of infancy 显示文摘Depienne C Arzimanoglou A Trouillard O 2006Hum Mutat2006,27,4:1
6Cellular distribution and karyophilie properties of matrix, integrase, and Vpr proteins from the human and simian immunodeficiency viruses 显示文摘Depienne C Roques P Creminon C 2000Exp Cell Res2000,260,2:1
7Sporadic infantile ep- ileptic encephalopathy caused by mutations in PCDH19 resem- bles Dravet syndrome but mainly affects females 显示文摘Depienne C Bouteiller D Keren B 2009PLoS Genet2009,5,10:1
8PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder 显示文摘Depienne E LeGuern E 2012Hum Mutat2012,33,:1
9Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p显示文摘Depienne C Magnin E Bouteiller D 2010Neurology2010,74,24:1
10Sporadic infantile ep- ileptic encephalopathy caused by mutations in PCDH19 resem- bles Dravet syndrome but mainly affects females 显示文摘Depienne C Bouteiller D Keren B 2009PLoS Genet2009,5,10:1
11GABA(A) receptor gamma 2 subunit mutationslinked to human epileptic syndromes differentially affect phasic and tonic inhibition显示文摘Eugène E Depienne C Baulac S 2007JNeurosci2007,27,14:1
12Mutations and dele- tions in PCDH19 account for various familial or isolated epilepsies in females 显示文摘Depienne C Trouillard O Bouteiller D 2011Hum Mutat2011,32,1:1
13Familial cortical my?oclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p显示文摘Depienne C Magnin E Bouteiller D 2010Neurology2010,74,24:1
14PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population显示文摘Meneret A Grabli D Depienne C 2012Neurology2012,79,:1
15Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA 显示文摘Piard J Depienne C Keren B 2011Am J Med Genet A2011,155,12:1
16PCDH19-related infantile epileptic eneephalopathy : an unusual X-linked inheritance disorder 显示文摘Depienne C Le Guern E 2012Hum Mutat2012,33,4:1
17Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females显示文摘Depienne C Bouteiller D Keren B 2009PLoS Genet2009,5,2:1
18Hereditary spastic paraplegias: an update显示文摘Depienne C Stevanin G Brice A 2007Curr Opin Neurol2007,20,6:1
19PRRT2 mutations:a major cause of paroxysmal kinesigenic dyskinesia in the European population显示文摘Meneret A Grabli D Depienne C 2012Neurology2012,79,2:1
20Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations显示文摘Debs R Depienne C Rastetter A 2010Arch Neurol2010,67,1:1
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