1. Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. Issue 7 (22nd April 2020) Authors: Durkin, Anna; Albaba, Shadi; Fry, Andrew E.; Morton, Jenny E.; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker‐Touw, Catharina M.L.; Lynch, Sally A.; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J.;... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical report follow up: Type 1 Collagenopathy presenting with a Russell–Silver phenotype. Issue 1 (17th December 2018) Authors: Kanani, Farah; Parker, Michael J.; Burren, Christine P.; Rankin, Julia; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H.... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Computer Control of Drug Delivery by Continuous Intravenous Infusion. (March 2015) Authors: Parker, Michael J.; Lovich, Mark A.; Tsao, Amy C.; Wei, Abraham E.; Wakim, Matthew G.; Maslov, Mikhail Y.; Tsukada, Hisashi; Peterfreund, Robert A. Journal: Anesthesiology Issue: Volume 122:Number 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Computer Control of Drug Delivery by Continuous Intravenous Infusion: Bridging the Gap between Intended and Actual Drug Delivery. (March 2015) Authors: Parker, Michael J.; Lovich, Mark A.; Tsao, Amy C.; Wei, Abraham E.; Wakim, Matthew G.; Maslov, Mikhail Y.; Tsukada, Hisashi; Peterfreund, Robert A. Journal: Anesthesiology Issue: Volume 122:Number 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CRTAP mutation in a patient with Cole‐Carpenter syndrome. (21st January 2015) Authors: Balasubramanian, Meena; Pollitt, Rebecca C.; Chandler, Kate E.; Mughal, M. Z.; Parker, Michael J.; Dalton, Ann; Arundel, Paul; Offiah, Amaka C.; Bishop, Nicholas J. Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications. Issue 4 (31st March 2018) Authors: Wolfe, Kate; McQuillin, Andrew; Alesi, Viola; Boudry Labis, Elise; Cutajar, Peter; Dallapiccola, Bruno; Dentici, Maria Lisa; Dieux‐Coeslier, Anne; Duban‐Bedu, Benedicte; Duelund Hjortshøj, Tina; Goel, Himanshu; Loddo, Sara; Morrogh, Deborah; Mosca‐Boidron, Anne‐Laure; Novelli, Antonio; Olivier‐Fa... Journal: American journal of medical genetics Issue: Volume 177:Issue 4(2018) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗