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Author/Creator Alessandri, Jean-Luc

1. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012)

Authors:
Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
737
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018)

Authors:
Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 6(2018)
Page Start:
359
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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