Search

Author/Creator Thompson, Elizabeth M

1. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

Authors:
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
659
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Issue 7 (11th July 2012)

Authors:
Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombe...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 7(2012)
Page Start:
473
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Issue 6 (17th April 2014)

Authors:
Bear, Kelly A; Solomon, Benjamin D; Antonini, Sonir; Arnhold, Ivo J P; França, Marcela M; Gerkes, Erica H; Grange, Dorothy K; Hadley, Donald W; Jääskeläinen, Jarmo; Paulo, Sabrina S; Rump, Patrick; Stratakis, Constantine A; Thompson, Elizabeth M; Willis, Mary; Winder, Thomas L; Jorge, Alexander A...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 6(2014)
Page Start:
413
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search