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Author/Creator Szynkiewicz, Marcin

1. A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. Issue 2 (21st November 2013)

Authors:
Livingston, John H; Lin, Jean-Pierre; Dale, Russell C; Gill, Deepak; Brogan, Paul; Munnich, Arnold; Kurian, Manju A; Gonzalez-Martinez, Victoria; De Goede, Christian G E L; Falconer, Alastair; Forte, Gabriella; Jenkinson, Emma M; Kasher, Paul R; Szynkiewicz, Marcin; Rice, Gillian I; Crow, Yanick J
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 2(2014)
Page Start:
76
Record Type:
Journal Article
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2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
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3. 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
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4. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Synonymous Mutations in RNASEH2A Create Cryptic Splice Sites Impairing RNase H2 Enzyme Function in Aicardi–Goutières Syndrome. Issue 8 (13th May 2013)

Authors:
Rice, Gillian I.; Reijns, Martin A.M.; Coffin, Stephanie R.; Forte, Gabriella M.A.; Anderson, Beverley H.; Szynkiewicz, Marcin; Gornall, Hannah; Gent, David; Leitch, Andrea; Botella, Maria P.; Fazzi, Elisa; Gener, Blanca; Lagae, Lieven; Olivieri, Ivana; Orcesi, Simona; Swoboda, Kathryn J.; Perrin...
Journal:
Human mutation
Issue:
Volume 34:Issue 8(2013:Aug.)
Page Start:
1066
Record Type:
Journal Article
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