About: 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping   Goto Sponge  NotDistinct  Permalink

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  • Nambot Sophie, Masurel Alice, El Chehadeh Salima, Mosca-Boidron Anne-Laure, Thauvin-Robinet Christel, Lefebvre Mathilde, Marle Nathalie, Thevenon Julien, Perez-Martin Stéphanie, Dulieu Véronique, Huet Frédéric, Plessis Ghislaine, Andrieux Joris, Jouk Pierre-Simon, Billy-Lopez Gipsy, Coutton Charles, Morice-Picard Fanny, Delrue Marie-Ange, Heron Delphine, Rooryck Caroline, Goldenberg Alice, Saugier-Veber Pascale, Joly-Hélas Géraldine, Kuentz Paul, Manouvrier-Hanu Sylvie, Dupuis-Girod Sophie, Callier Patrick. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
  • Nambot Sophie, Masurel Alice, El Chehadeh Salima, Mosca-Boidron Anne-Laure, Thauvin-Robinet Christel, Marle Nathalie, Thevenon Julien, Perez-Martin Stéphanie, Dulieu Véronique, Huet Frédéric, Plessis Ghislaine, Andrieux Joris, Jouk Pierre-Simon, Billy-Lopez Gipsy, Coutton Charles, Morice-Picard Fanny, Delrue Marie-Ange, Heron Delphine, Rooryck Caroline, Goldenberg Alice, Saugier-Veber Pascale, Joly-Hélas Géraldine, Kuentz Paul, Manouvrier-Hanu Sylvie, Dupuis-Girod Sophie, Callier Patrick. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
  • NambotSophie, MasurelAlice, El ChehadehSalima, Mosca-BoidronAnne-Laure, Thauvin-RobinetChristel, LefebvreMathilde, MarleNathalie, ThevenonJulien, Perez-MartinStéphanie, DulieuVéronique, HuetFrédéric, PlessisGhislaine, AndrieuxJoris, JoukPierre-Simon, Billy-LopezGipsy, CouttonCharles, Morice-PicardFanny, DelrueMarie-Ange, HeronDelphine, RooryckCaroline, GoldenbergAlice, Saugier-VeberPascale, Joly-HélasGéraldine, KuentzPaul, Manouvrier-HanuSylvie, Dupuis-GirodSophie, CallierPatrick . 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping . European Journal of Human Genetics, 2016, 24 (6), pp.830 - 837 . ⟨10.1038/ejhg.2015.202⟩
Title
  • 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
dc:date
  • 2016
Digital Object Identifier (DOI)
  • 10.1038/ejhg.2015.202
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