Search

Author/Creator Bitoun, P.

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) ↗

2. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Issue 6 (23rd February 2017)

Authors:
Ranza, E.; Huber, C.; Levin, N.; Baujat, G.; Bole‐Feysot, C.; Nitschke, P.; Masson, C.; Alanay, Y.; Al‐Gazali, L.; Bitoun, P.; Boute, O.; Campeau, P.; Coubes, C.; McEntagart, M.; Elcioglu, N.; Faivre, L.; Gezdirici, A.; Johnson, D.; Mihci, E.; Nur, B.G.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 6(2017)
Page Start:
868
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016)

Authors:
Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 5(2016)
Page Start:
630
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search