1. 1252Agreement between self-reported chlamydia infection and chlamydia infection ascertained using testing and medication administrative data. (2nd September 2021) Authors: Wilson, Louise; Dobson, Annette; Doust, Jenny; Mishra, Gita Journal: International journal of epidemiology Issue: Volume 50(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 14 Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia. (30th November 2020) Authors: Steel, Edward; Hurst, Jane; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 41 Using a genetic counsellor to streamline patient care in a subspecialty setting: the craniofacial genetic counsellor. (22nd November 2019) Authors: Robart, Sarah; Wilson, Louise Journal: Archives of disease in childhood Issue: Volume 104:Supplement 4(2019) Page Start: A17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Gulf in lockdown: How an enforced ban on recreational vessels increased dolphin and fish communication ranges. (22nd July 2021) Authors: Pine, Matthew K.; Wilson, Louise; Jeffs, Andrew G.; McWhinnie, Lauren; Juanes, Francis; Scuderi, Alessia; Radford, Craig A. Journal: Global change biology Issue: Volume 27:Number 19(2021) Page Start: 4839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. Issue 4 (October 2019) Authors: Menzies, Lara; Cullup, Tom; Calder, Alistair; Wilson, Louise; Faravelli, Francesca Journal: Clinical dysmorphology Issue: Volume 28:Issue 4(2019:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014) Authors: Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Global COVID-19 lockdown highlights humans as both threats and custodians of the environment. (November 2021) Authors: Bates, Amanda E.; Primack, Richard B.; Biggar, Brandy S.; Bird, Tomas J.; Clinton, Mary E.; Command, Rylan J.; Richards, Cerren; Shellard, Marc; Geraldi, Nathan R.; Vergara, Valeria; Acevedo-Charry, Orlando; Colón-Piñeiro, Zuania; Ocampo, David; Ocampo-Peñuela, Natalia; Sánchez-Clavijo, Lina M.; ... Journal: Biological conservation Issue: Volume 263(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013) Authors: Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (January 2018) Authors: Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju; Nas... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗