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| Title : Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment - Quartier_2019_Hum.Mutat_40_2021 |
| Author(s) : Quartier A , Courraud J , Thi Ha T , McGillivray G , Isidor B , Rose K , Drouot N , Savidan MA , Feger C , Jagline H , Chelly J , Shaw M , Laumonnier F , Gecz J , Mandel JL , Piton A |
| Ref : Hum Mutat , 40 :2021 , 2019 |
| Abstract : Quartier_2019_Hum.Mutat_40_2021 |
| ESTHER : Quartier_2019_Hum.Mutat_40_2021 |
| PubMedSearch : Quartier_2019_Hum.Mutat_40_2021 |
| PubMedID: 31184401 |
| Gene_locus related to this paper: human-NLGN3 |
| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| ESTHER : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |