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Date 2022 Author/Creator Labrune, Philippe

1. Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry. (29th March 2022)

Authors:
Aronson, Sem J.; Junge, Norman; Trabelsi, Mediha; Kelmemi, Wided; Hubert, Aurelie; Brigatti, Karlla W.; Fox, Michael D.; de Knegt, Robert J.; Escher, Johanna C.; Ginocchio, Virginia M.; Iorio, Raffaele; Zhu, Yan; Özçay, Figen; Rahim, Fakher; El‐Shabrawi, Mortada H.F.; Shteyer, Eyal; Di Giorgio, A...
Journal:
Liver international
Issue:
Volume 42:Number 7(2022)
Page Start:
1593
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Management of copy number variants associated with incomplete penetrance and variable expressivity—Results of a French survey. Issue 3 (9th November 2022)

Authors:
Lejamtel, Floriane; Oheix, Cécile; Morales, Elisa; Martinovic, Jelena; Labrune, Philippe; Petit, François Mickaël; Receveur, Aline; Achour‐Frydman, Nelly; Benachi, Alexandra; Puisney‐Dakhli, Chloé; Vivanti, Alexandre Joseph
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
335
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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