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References (3)

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

Title : Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220
Author(s) : Citterio CE , Rossetti LC , Souchon PF , Morales C , Thouvard-Viprey M , Salmon-Musial AS , Mauran PL , Doco-Fenzy M , Gonzalez-Sarmiento R , Rivolta CM , De Brasi CD , Targovnik HM
Ref : Mol Cell Endocrinol , 381 :220 , 2013
Abstract : Citterio_2013_Mol.Cell.Endocrinol_381_220
ESTHER : Citterio_2013_Mol.Cell.Endocrinol_381_220
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_381_220
PubMedID: 23933148
Gene_locus related to this paper: human-TG

Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM
Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010
Abstract : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
ESTHER : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
PubMedID: 20447071
Gene_locus related to this paper: human-TG