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62篇 您的检索式:作者名="Heron SE"
    题名 作者 年代 出处 被引量
1PRRT2 phenotypicspectrum includes sporadic and fever-related infantile seizures显示文摘Scheffer IE Grinton BE Heron SE 2012Neurology2012,79,:1
2De novo SCNIA muta- tions in Dravet syndrome and related epileptic encephalopa- thies are largely of paternal origin 显示文摘Heron SE Scheffer IE Iona X 2010J Med Genet2010,47,2:1
3Neonatal seizures and long QT syndrome:a cardiocerebral channelopathy显示文摘Heron SE Hernandez M Edwards C 2010Epilepsia2010,51,2:1
4PRRT2 muta- tions cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome 显示文摘Heron SE Grinton BE Kivity S 2012Am J Hum Genet2012,90,1:1
5PRRT2 phenotypicspectrum includes sporadic and fever-related infantile seizures显示文摘Scheffer IE Grinton BE Heron SE 2012Neurology2012,79,:1
6Benign familial neonatal-infantile seizures:characterization of a new sodium channelopathy显示文摘Berkovic SF Heron SE Giordano L 2004An Nerrol2004,55,:1
7Role of PRRT2 in common paroxysmal neurological disorders :a gene with remarkable pleiotropy显示文摘Heron SE Dibbens LM 2013J Med Genet2013,50,3:1
8Role of PRRT2 in common paroxysmalneurological disorders: a gene with remarkable pleiotropy显示文摘Heron SE Dibbens LM 2013JMed Genet2013,50,:1
9Failure to confirm association of a polymorphism in ABCB1 with muhidrug-resistant epilepsy 显示文摘Tan NC Heron SE Scheffer IE 2004Neurology2004,6,6:1
10PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome 显示文摘Heron SE Grinton BE Kivity S 2012Am J Hum Genet2012,90,:1
11PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome显示文摘Heron SE Grinton BE Kivity S 2012Am J Hum Genet2012,90,1:1
12PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome显示文摘Heron SE Grinton BE Kivity S 2012Am J Hum Genet2012,90,:1
13Extended spec- trum of idiopathic generalized epilepsies associated with cac- nalh functional variants 显示文摘Heron SE Khosravani H Varela D 2007Ann neuroh2007,62,6:1
14PRRT2 mutations cause benign familial infantile epilepsy and infantile convul- sions with choreoathetosis syndrome 显示文摘Heron SE Grinton BE Kivity S 2012Am J Hum Genet2012,90,1:1
15Sodium-channel defects in benign familial neonatal-infantile seizures 显示文摘Heron SE Crossland KM Andermann E 2002Lancet2002,360,:1
16Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures 显示文摘Heron SE Cox K Grinton BE 2007J Med Genet2007,44,:1
17Sodium-channel de- fects in benign familial neonatal-infantile seizures 显示文摘Heron SE Crossland KM Andemmnn E 2002Lancet2002,360,9336:1
18Genetic variation of CACNA1 H in idiopathic generalized epilepsy 显示文摘Heron SE Phillips HA Mulley JC 2004Ann Neurol2004,55,4:1
19De novo SCN1A muta- tions in Dravet syndrome and related epileptic encephalopa- thies are largely of paternal origin 显示文摘Heron SE Scheffer IE Iona X 2009J Med Genet2009,47,2:1
20Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants 显示文摘Heron SE Khosravani H Varela D 2007Ann Neurol2007,62,6:1
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