1. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Issue 4 (22nd March 2017) Authors: Sharkia, Rajech; Shalev, Stavit A.; Zalan, Abdelnaser; Marom‐David, Milit; Watemberg, Nathan; Urquhart, Jill E.; Daly, Sarah B.; Bhaskar, Sanjeev S.; Williams, Simon G.; Newman, William G.; Spiegel, Ronen; Azem, Abdussalam; Elpeleg, Orly; Mahajnah, Muhammad Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1051 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗