A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms
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概要
- 論文の詳細を見る
- 2010-03-01
著者
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Zara Federico
Laboratory Of Neurogenetics Department Of Muscular And Neurodegenerative Disease "g. Gaslini&qu
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Striano Salvatore
Epilepsy Center Department Of Neurological Sciences University Of Naples Federico Ii
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Striano Salvatore
Department Of Neurological Sciences Epilepsy Center Federico Ii University
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Zara Federico
Muscolar And Neurodegenerative Diseases Unit G.gaslini Institute
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Coppola Antonietta
Epilepsy Center Neurology Department Federico Ii University
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STRIANO Pasquale
Muscolar and Neurodegenerative Diseases Unit, G.Gaslini Institute
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GIMELLI Stefania
Department of Genetic Medicine and Development, University of Geneva
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CIAMPA Clotilde
Epilepsy Center, Neurology Department, Federico II University
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SANTULLI Lia
Epilepsy Center, Neurology Department, Federico II University
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CARANCI Ferdinando
Neuroradiology Unit, Federico II University
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ZUFFARDI Orsetta
Department of Human and Hereditary Pathology, University of Pavia
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GIMELLI Giorgio
Cytogenetic Laboratory, G. Gaslini Institute
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Striano Pasquale
Muscolar And Neurodegenerative Diseases Unit G.gaslini Institute
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Santulli Lia
Epilepsy Center Neurology Department Federico Ii University
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Zuffardi Orsetta
Department Of Human And Hereditary Pathology University Of Pavia
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Caranci Ferdinando
Neuroradiology Unit Federico Ii University
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Gimelli Giorgio
Cytogenetic Laboratory G. Gaslini Institute
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Ciampa Clotilde
Epilepsy Center Neurology Department Federico Ii University
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Gimelli Stefania
Department Of Genetic Medicine And Development University Of Geneva
関連論文
- Autosomal Recessive Idiopathic Epilepsy in an Inbred Family from Turkey : Identification of a Putative Locus on Chromosome 9q32-33
- Lack of SCN1A Mutations in Familial Febrile Seizures
- No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12-q13.1
- Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy
- Late-onset and Slow-progressing Lafora Disease in Four Siblings with EPM2B Mutation
- A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms
- A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1-q12.2
- A t(4;9)(q34;p22) Translocation Associated with Partial Epilepsy, Mental Retardation, and Dysmorphism