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Author/Creator Manouvrier, S.

1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015)

Authors:
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 4(2016)
Page Start:
501
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1‐mutated patient's management. Issue 1 (22nd February 2017)

Authors:
Colson, C.; Aubry, E.; Cartigny, M.; Rémy, A.‐A.; Franquet, H.; Leroy, X.; Kéchid, G.; Lefèvre, C.; Besson, R.; Cools, M.; Spinoit, A.F.; Sultan, C.; Manouvrier, S.; Philibert, P.; Ghoumid, J.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 1(2017)
Page Start:
99
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗