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Author/Creator Boussion, Simon

1. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022)

Authors:
Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
494
Record Type:
Journal Article
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2. Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability. Issue 9 (15th July 2020)

Authors:
Morel, Godelieve; Duhamel, Céline; Boussion, Simon; Frénois, Frédéric; Lesca, Gaetan; Chatron, Nicolas; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Thevenon, Julien; Faivre, Laurence; Fassier, Alice; Prodhomme, Olivier; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Geneviève, D...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1499
Record Type:
Journal Article
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3. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations. Issue 1 (23rd September 2019)

Authors:
Jourdain, Anne‐Sophie; Petit, Florence; Odou, Marie‐Françoise; Balduyck, Malika; Brunelle, Perrine; Dufour, William; Boussion, Simon; Brischoux‐Boucher, Elise; Colson, Cindy; Dieux, Anne; Gérard, Marion; Ghoumid, Jamal; Giuliano, Fabienne; Goldenberg, Alice; Khau Van Kien, Philippe; Lehalle, Daph...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
222
Record Type:
Journal Article
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4. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Issue 7 (6th April 2020)

Authors:
Boussion, Simon; Escande, Fabienne; Jourdain, Anne‐Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Céline; Alembik, Yves; Attié‐Bitach, Tania; Baujat, Geneviève; Bazin, Anne; Bonnière, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sara...
Journal:
Human mutation
Issue:
Volume 41:Issue 7(2020)
Page Start:
1220
Record Type:
Journal Article
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