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100篇 您的检索式:作者名="Dibbens"
    题名 作者 年代 出处 被引量
1GABRD encoding a protein for extra - or peri - synaptic GABAA receptors is a susceptibility locus for generalized epilepsies 显示文摘Dibbens LM Feng H J Richards MC 2004Hum Mol Genet2004,13,13:1
2GABRD encoding a protein for extra or peri-synaptic GABAA receptors is a suscepti- bility locus for generalized epilepsies显示文摘Dibbens LM Feng H J Richards MC 2004Hum Mol Genet2004,13,13:1
3GABRD encoding aprotein for extr-or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies显示文摘Dibbens LM Feng HJ Richards MC 2004Hum Mol Genet2004,13,2:1
4The 'loughborough loess' Monte Carlo model of soil structure显示文摘DIBBEN S C JEFFERSON I F SMALLEY I J 1998Computers & Geosciences1998,24,4:1
5Truncation of the GABA (A) -receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus显示文摘Harkin LA Bowser DN Dibbens LM 2002Am J Hum Genet2002,70,2:1
6Mutations in DEPDC5 cause familial focal epilepsy with variable loci 显示文摘Dibbens LM De Vries B Donatello S 2013Na Genet2013,45,5:1
7Generalized epilepsy with febrile seizures plus : Evidence for complex inheritance and overlap with idiopathic generalized epilepsies 显示文摘Zhang YH Malone J Dibbens L 2005Epilepsia2005,46,6:1
8Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis显示文摘Berkovic SF Dibbens LM Oshlack A 2008Am J Hum Genet2008,82,3:1
9GABRD encoding a protein for extra-or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies显示文摘Dibbens LM Feng HJ Richards MC 2004Hum Mol Genet2004,13,2:1
10Timing of de novo mutagenesis a twin study of sodium-channel mutations 显示文摘Vadlamudi L Dibbens L M Lawrence K M 2010N Engl J Med2010,363,14:1
11Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy显示文摘Dibbens LM Karakis I Bayly MA 2011Arch Neurol2011,68,6:1
12SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure显示文摘Dibbens LM Michelucci R Gambardella A 2009Ann Neurol2009,66,4:1
13X-linked protocad- herin 19 mutations cause female-limited epilepsy and cogni- tive impairment 显示文摘Dibbens LM Tarpey PS Hynes K 2008Nat Genet2008,40,:1
14Hypoxic regulation of vascular endothelial growth factor mRNA stability requires the cooperation of multiple RNA elements 显示文摘DIBBENS J A MILLER D L DAMERT A 1999Mol Biol Cell1999,10,4:1
15Role 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
16Role of PRRT2 in common paroxysmalneurological disorders: a gene with remarkable pleiotropy显示文摘Heron SE Dibbens LM 2013JMed Genet2013,50,:1
17Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus显示文摘Harkin LA Bowser DN Dibbens LM 2002Am J Hum Genet2002,70,2:1
18Epilepsy and men- tal retardation limited to females:an under-recognized disor- der 显示文摘Scheffer IE Turner SJ Dibbens LM 2008Brain2008,131,:1
19GABRD encoding a protein for extra-orperi-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies显示文摘Dibbens LM Feng HJ Richards MC 2004HumMol Genet2004,13,:1
20GABRD encodinga protein for extraor peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies 显示文摘Dibbens LM Feng HJ Richards MC 2004Hum MolGenet2004,13,2:1
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