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Author/Creator Cleaver, Ruth

4. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. (20th March 2020)

Authors:
Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elain...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1900
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. Issue 3 (13th January 2019)

Authors:
Cleaver, Ruth; Berg, Jonathan; Craft, Emily; Foster, Alison; Gibbons, Richard J.; Hobson, Emma; Lachlan, Katherine; Naik, Swati; Sampson, Julian R.; Sharif, Saba; Smithson, Sarah; Parker, Michael J.; Tatton‐Brown, Katrina
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 3(2019)
Page Start:
344
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗