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Author/Creator Gautier, Elodie

1. Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Issue 1 (12th September 2016)

Authors:
Gauthier‐Vasserot, Alexandra; Thauvin‐Robinet, Christel; Bruel, Ange‐Line; Duffourd, Yannis; St‐Onge, Judith; Jouan, Thibaud; Rivière, Jean‐Baptiste; Heron, Delphine; Donadieu, Jean; Bellanné‐Chantelot, Christine; Briandet, Claire; Huet, Frédéric; Kuentz, Paul; Lehalle, Daphné; Duplomb‐Jego, Laur...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
62
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Issue 4 (1st February 2013)

Authors:
Thauvin-Robinet, Christel; Munck, Anne; Huet, Frédéric; de Becdelièvre, Alix; Jimenez, Clément; Lalau, Guy; Gautier, Elodie; Rollet, Jacques; Flori, Jean; Nové-Josserand, Raphaëlle; Soufir, Jean-Claude; Haloun, Alain; Hubert, Dominique; Houssin, Elise; Bellis, Gil; Rault, Gilles; David, Albert; J...
Other Names:
Bazin A author non-byline.; Blayau M author non-byline.; Bonnefont JP author non-byline.; Bouligand J author non-byline.; Chéry M author non-byline.; Chevalier-Porst F author non-byline.; Costa JM author non-byline.; Coude M author non-byline.; Creveaux I author non-byline.; Dalstein V author non...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 4(2013)
Page Start:
220
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021)

Authors:
Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ...
Journal:
Clinical genetics
Issue:
Volume 99:Issue 5(2021)
Page Start:
650
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020)

Authors:
Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 7(2020)
Page Start:
466
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗