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Author/Creator Ruddy, Deborah

2. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019)

Authors:
Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh...
Journal:
Parkinsonism & related disorders
Issue:
Volume 61(2019)
Page Start:
101
Record Type:
Journal Article
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3. 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
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4. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies. (August 2015)

Authors:
Southgate, Laura; Sukalo, Maja; Karountzos, Anastasios S.V.; Taylor, Edward J.; Collinson, Claire S.; Ruddy, Deborah; Snape, Katie M.; Dallapiccola, Bruno; Tolmie, John L.; Joss, Shelagh; Brancati, Francesco; Digilio, Maria Cristina; Graul-Neumann, Luitgard M.; Salviati, Leonardo; Coerdt, Wiltrud...
Journal:
Circulation
Issue:
Volume 8:Number 4(2015)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗