1. A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3. Issue 5 (6th March 2018) Authors: Schepers, Dorien; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, Mark; Liang, David; Mehta, Sarju G.; Hague, Jennifer; Verhagen, Judith; van de Laar, Ingrid; Wessels, Marja; Detisch, Yvonne; van Haelst, Mieke; Baas, Annette; Lichtenbelt, Klaske; Braun, Kees; van der Linde, Denis... Journal: Human mutation Issue: Volume 39:Issue 5(2018) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing123. Issue 1 (3rd December 2012) Authors: Schrauwen, Isabelle; Sommen, Manou; Corneveaux, Jason J.; Reiman, Rebecca A.; Hackett, Nicole J.; Claes, Charlotte; Claes, Kathleen; Bitner‐Glindzicz, Maria; Coucke, Paul; Van Camp, Guy; Huentelman, Matthew J. Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm. Issue 1 (December 2017) Authors: Vierstraete, Jeroen; Willaert, Andy; Vermassen, Petra; Coucke, Paul; Vral, Anne; Claes, Kathleen Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Association between Kniest dysplasia and chondrosarcoma in a child. (8th September 2015) Authors: Hochart, Audrey; Dieux, Anne; Coucke, Paul; Fron, Damien; Fayoux, Pierre; Labalette, Pierre; Boutry, Nathalie; Escande, Fabienne; Aubert, Sébastien; Renaud, Florence; Rocourt, Nathalie; Vinchon, Matthieu; Leblond, Pierre Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis. (November 2016) Authors: Haddaji Mastouri, Marwa; De Coster, Peter; Zaghabani, Aicha; Trabelsi, Saoussen; May, Yosra; Saad, Ali; Coucke, Paul; H'mida Ben Brahim, Dorra Journal: Archives of oral biology Issue: Volume 71(2016) Page Start: 110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis. (November 2016) Authors: Haddaji Mastouri, Marwa; De Coster, Peter; Zaghabani, Aicha; Trabelsi, Saoussen; May, Yosra; Saad, Ali; Coucke, Paul; H'mida Ben Brahim, Dorra Journal: Archives of oral biology Issue: Volume 71(2016) Page Start: 110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery. Issue 5 (13th March 2013) Authors: Solomons, Joyce; Coucke, Paul; Symoens, Sofie; Cohen, Marta C.; Pope, F. Michael; Wagner, Bart E.; Sobey, Glenda; Black, Rebecca; Cilliers, Deirdre Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization. (5th April 2021) Authors: Tytgat, Olivier; Tang, Mao-Xing; van Snippenberg, Willem; Boel, Annekatrien; Guggilla, Ramesh Reddy; Gansemans, Yannick; Van Herp, Michiel; Symoens, Sofie; Trypsteen, Wim; Deforce, Dieter; Heindryckx, Björn; Coucke, Paul; De Spiegelaere, Ward; Van Nieuwerburgh, Filip Journal: Clinical chemistry Issue: Volume 67:Number 7(2021) Page Start: 968 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗