Morin G

Title : HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients - Kovacs-Nagy_2018_Neuropediatrics_49_373

Author(s) : Kovacs-Nagy R , Morin G , Nouri MA , Brandau O , Saadi NW , van den Broek F , Prokisch H , Mayr JA , Wortmann SB

Ref : Neuropediatrics , 49 :373 , 2018

Abstract :

PubMedSearch : Kovacs-Nagy_2018_Neuropediatrics_49_373

PubMedID: 30114719

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

Morin G

References (2)

1. HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients - Kovacs-Nagy_2018_Neuropediatrics_49_373

2. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing - Redin_2014_J.Med.Genet_51_724