1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE). (January 2019) Authors: Mansour, Sahar; Baple, Emma; Hall, Christine M Journal: Journal of hand surgery Issue: Volume 44:Number 1(2019) Page Start: 96 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. Abnormal Rab11‐Rab8‐vesicles cluster in enterocytes of patients with microvillus inclusion disease. (17th May 2017) Authors: Vogel, Georg F.; Janecke, Andreas R.; Krainer, Iris M.; Gutleben, Karin; Witting, Barbara; Mitton, Sally G.; Mansour, Sahar; Ballauff, Antje; Roland, Joseph T.; Engevik, Amy C.; Cutz, Ernest; Müller, Thomas; Goldenring, James R.; Huber, Lukas A.; Hess, Michael W. Journal: Traffic Issue: Volume 18:Number 7(2017) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation. (June 2021) Authors: King-Robson, Josh; Marshall, Joseph; Smith, Frances; Willoughby, Leanne; Mansour, Sahar; Sztriha, Laszlo Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition. (4th October 2017) Authors: Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A; Stadnik, Paulina; Joseph, Agnel P; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M; Jacques, Thomas; James, Gregory; Kond... Journal: Archives of disease in childhood Issue: Volume 102(2017)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa. Issue 1 (13th August 2012) Authors: Callewaert, Bert; Su, Chi‐Ting; Van Damme, Tim; Vlummens, Philip; Malfait, Fransiska; Vanakker, Olivier; Schulz, Bianca; Mac Neal, Meghan; Davis, Elaine C.; Lee, Joseph G.H.; Salhi, Aicha; Unger, Sheila; Heimdal, Ketil; De Almeida, Salome; Kornak, Uwe; Gaspar, Harald; Bresson, Jean‐Luc; Prescott,... Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome. Issue 3 (5th November 2015) Authors: Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal,... Journal: Journal of medical genetics Issue: Volume 53:Issue 3(2016) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Effect of Surface Site Defects on Photocatalytic Properties of BiVO4/TiO2 Heterojunction for Enhanced Methylene Blue Degradation. (15th December 2020) Authors: Mansour, Sahar; Akkari, Rym; Ben Chaabene, Semy; Saïd Zina, Mongia Other Names: Koshy Pramod Academic Editor. Journal: Advances in materials science and engineering Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Fetal hydrops – a review and a clinical approach to identifying the cause. (3rd March 2020) Authors: Dempsey, Esther; Homfray, Tessa; Simpson, John M; Jeffery, Steve; Mansour, Sahar; Ostergaard, Pia Journal: Expert opinion on orphan drugs Issue: Volume 8:Number 2/3(2020) Page Start: 51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗