Search

Author/Creator Baujat, G

1. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Issue 12 (29th July 2009)

Authors:
Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 12(2010)
Page Start:
797
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. Issue 4 (1st April 2005)

Authors:
Tatton-Brown, K; Douglas, J; Coleman, K; Baujat, G; Chandler, K; Clarke, A; Collins, A; Davies, S; Faravelli, F; Firth, H; Garrett, C; Hughes, H; Kerr, B; Liebelt, J; Reardon, W; Schaefer, G B; Splitt, M; Temple, I K; Waggoner, D; Weaver, D D
Other Names:
group-author.
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 4(2005)
Page Start:
307
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. (19th April 2013)

Authors:
Holman, SK; Morgan, T; Baujat, G; Cormier‐Daire, V; Cho, T‐J; Lees, M; Samanich, J; Tapon, D; Hove, HD; Hing, A; Hennekam, R; Robertson, SP
Journal:
Clinical genetics
Issue:
Volume 83:Number 3(2013:Mar.)
Page Start:
251
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus. (5th July 2012)

Authors:
Holman, SK; Morgan, T; Baujat, G; Cormier‐Daire, V; Cho, T‐J; Lees, M; Samanich, J; Tapon, D; Hove, HD; Hing, A; Hennekam, R; Robertson, SP
Journal:
Clinical genetics
Issue:
Volume 83:Number 3(2013:Mar.)
Page Start:
251
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗