| 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 : |
| PubMedSearch : Tingaud-Sequeira_2017_Neurobiol.Dis_98_36 |
| PubMedID: 27890673 |
| Gene_locus related to this paper: human-ABHD12 |
| 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 : |
| 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 : |
| PubMedSearch : Redin_2014_J.Med.Genet_51_724 |
| PubMedID: 25167861 |
| Gene_locus related to this paper: human-NLGN3 |
| 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 : |
| PubMedSearch : Redin_2014_J.Med.Genet_51_724 |
| PubMedID: 25167861 |
| Gene_locus related to this paper: human-NLGN3 |