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Author/Creator Poole, Rebecca L.

1. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021)

Authors:
Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton‐Brown, Katrina
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2445
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Issue 9 (2nd August 2013)

Authors:
Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2174
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Issue 9 (2nd August 2013)

Authors:
Poole, Rebecca L.; Docherty, Louise E.; Al Sayegh, Abeer; Caliebe, Almuth; Turner, Claire; Baple, Emma; Wakeling, Emma; Harrison, Lucy; Lehmann, Anna; Temple, I. Karen; Mackay, Deborah J.G.
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 9(2013:Sep.)
Page Start:
2174
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗