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Author/Creator Kuentz, P.

11. OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway. Issue Volume 58:Issue S1(2021)Supplement (14th October 2021)

Authors:
Bourgon, N.; Carmignac, V.; Sorlin, A.; Duffour, Y.; Philippe, C.; Thauvin, C.; Guibaud, L.; Faivre, L.; Vabres, P.; Kuentz, P.
Journal:
Ultrasound in obstetrics & gynecology
Issue:
Volume 58:Issue S1(2021)Supplement
Page Start:
52
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

12. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. Issue 12 (26th October 2018)

Authors:
Lemattre, C.; Thevenon, J.; Duffourd, Y.; Nambot, S.; Haquet, E.; Vuadelle, B.; Genevieve, D.; Sarda, P.; Bruel, A. L.; Kuentz, P.; Wells, C. F.; Faivre, L.; Willems, M.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2813
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗