Search

Author/Creator Rossier, E

1. Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. Issue 2 (1st February 2002)

Authors:
Barbi, G; Rossier, E; Vossbeck, S; Hummler, H; Lang, D; Flock, F; Terinde, R; Wirth, J; Vogel, W; Kehrer-Sawatzki, H
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 2(2002)
Page Start:
e6
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Issue 5 (28th April 2006)

Authors:
Seifert, W; Holder-Espinasse, M; Spranger, S; Hoeltzenbein, M; Rossier, E; Dollfus, H; Lacombe, D; Verloes, A; Chrzanowska, K H; Maegawa, G H B; Chitayat, D; Kotzot, D; Huhle, D; Meinecke, P; Albrecht, B; Mathijssen, I; Leheup, B; Raile, K; Hennies, H C; Horn, D
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 5(2006)
Page Start:
e22
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗