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Author/Creator O'Sullivan, James

21. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. Issue 9980 (9th May 2015)

Authors:
Ellingford, Jamie M; Sergouniotis, Panagiotis I; Lennon, Rachel; Bhaskar, Sanjeev; Williams, Simon G; Hillman, Kate A; O'Sullivan, James; Hall, Georgina; Ramsden, Simon C; Lloyd, I Christopher; Woolf, Adrian S; Black, Graeme C M
Journal:
Lancet
Issue:
Volume 385:Issue 9980(2015)
Page Start:
1916
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

22. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation. Issue 8 (26th July 2013)

Authors:
Belot, Alexandre; Kasher, Paul R.; Trotter, Eleanor W.; Foray, Anne‐Perrine; Debaud, Anne‐Laure; Rice, Gillian I.; Szynkiewicz, Marcin; Zabot, Marie‐Therese; Rouvet, Isabelle; Bhaskar, Sanjeev S.; Daly, Sarah B.; Dickerson, Jonathan E.; Mayer, Josephine; O'Sullivan, James; Juillard, Laurent; Urqu...
Journal:
Arthritis and rheumatism
Issue:
Volume 65:Issue 8(2013:Aug.)
Page Start:
2161
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

23. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation. Issue 8 (26th July 2013)

Authors:
Belot, Alexandre; Kasher, Paul R.; Trotter, Eleanor W.; Foray, Anne‐Perrine; Debaud, Anne‐Laure; Rice, Gillian I.; Szynkiewicz, Marcin; Zabot, Marie‐Therese; Rouvet, Isabelle; Bhaskar, Sanjeev S.; Daly, Sarah B.; Dickerson, Jonathan E.; Mayer, Josephine; O'Sullivan, James; Juillard, Laurent; Urqu...
Journal:
Arthritis and rheumatism
Issue:
Volume 65:Issue 8(2013:Aug.)
Page Start:
2161
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗