Report for Piton A

General

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References (2)

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 : 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

Report for Piton A

General

References (2)

1. Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

2. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing