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Report for Lacombe D

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References (2)

Title : Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC - Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
Author(s) : Tingaud-Sequeira A , Raldua D , Lavie J , Mathieu G , Bordier M , Knoll-Gellida A , Rambeau P , Coupry I , Andre M , Malm E , Moller C , Andreasson S , Rendtorff ND , Tranebjaerg L , Koenig M , Lacombe D , Goizet C , Babin PJ
Ref : Neurobiol Dis , 98 :36 , 2017
Abstract : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
ESTHER : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
PubMedSearch : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36
PubMedID: 27890673
Gene_locus related to this paper: human-ABHD12

Title : Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing - Redin_2014_J.Med.Genet_51_724
Author(s) : Redin C , Gerard B , Lauer J , Herenger Y , Muller J , Quartier A , Masurel-Paulet A , Willems M , Lesca G , El-Chehadeh S , Le Gras S , Vicaire S , Philipps M , Dumas M , Geoffroy V , Feger C , Haumesser N , Alembik Y , Barth M , Bonneau D , Colin E , Dollfus H , Doray B , Delrue MA , Drouin-Garraud V , Flori E , Fradin M , Francannet C , Goldenberg A , Lumbroso S , Mathieu-Dramard M , Martin-Coignard D , Lacombe D , Morin G , Polge A , Sukno S , Thauvin-Robinet C , Thevenon J , Doco-Fenzy M , Genevieve D , Sarda P , Edery P , Isidor B , Jost B , Olivier-Faivre L , Mandel JL , Piton A
Ref : Journal of Medical Genetics , 51 :724 , 2014
Abstract : Redin_2014_J.Med.Genet_51_724
ESTHER : Redin_2014_J.Med.Genet_51_724
PubMedSearch : Redin_2014_J.Med.Genet_51_724
PubMedID: 25167861
Gene_locus related to this paper: human-NLGN3