1. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018) Authors: Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome. (December 2018) Authors: Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, S... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Non-invasive Prenatal Diagnosis of Single Gene Disorders by Paternal Mutation Exclusion: 3 Years of Clinical Experience. Issue 4 (April 2023) Authors: Pacault, Mathilde; Verebi, Camille; Lopez, Maureen; Vaucouleur, Nicolas; Orhant, Lucie; Deburgrave, Nathalie; Leturcq, France; Vidaud, Dominique; Girodon, Emmanuelle; Bienvenu, Thierry; Nectoux, Juliette Journal: Obstetrical & gynecological survey Issue: Volume 78:Issue 4(2023) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience. (20th May 2022) Authors: Pacault, Mathilde; Verebi, Camille; Lopez, Maureen; Vaucouleur, Nicolas; Orhant, Lucie; Deburgrave, Nathalie; Leturcq, France; Vidaud, Dominique; Girodon, Emmanuelle; Bienvenu, Thierry; Nectoux, Juliette Journal: BJOG Issue: Volume 129:Number 11(2022) Page Start: 1879 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗