1. "I have to start learning how to live with becoming sick": A scoping review of the lived experiences of people with Huntington's disease. Issue 1 (13th July 2021) Authors: Mahmood, Saadia; Law, Susan; Bombard, Yvonne Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. "RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255‐260". Issue 3 (16th February 2020) Authors: Lindsley, Andrew W. Journal: Clinical genetics Issue: Volume 97:Issue 3(2020) Page Start: 538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (28th May 2013) Authors: Johnson, J.P.; Haag, M.; Beischel, L.; McCann, C.; Phillips, S.; Tunby, M.; Hansen, J.; Schwanke, C.; Reynolds, J.F. Journal: Clinical genetics Issue: Volume 85:Number 4(2014:Apr.) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 'Information is information': a public perspective on incidental findings in clinical and research genome‐based testing. (3rd May 2013) Authors: Daack‐Hirsch, S; Driessnack, M; Hanish, A; Johnson, VA; Shah, LL; Simon, CM; Williams, JK Journal: Clinical genetics Issue: Volume 84:Number 1(2013:Jul.) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 'It had to be done': genetic testing decisions for arrhythmogenic right ventricular cardiomyopathy. (28th October 2014) Authors: Etchegary, H.; Pullman, D.; Simmonds, C.; Young, T.‐L.; Hodgkinson, K. Journal: Clinical genetics Issue: Volume 88:Number 4(2015:Oct.) Page Start: 344 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 'When atlastin meets spastin'. (13th January 2014) Authors: Di Fabio, R.; Tessa, A.; Marcotulli, C.; Leonardi, L.; Pierelli, F.; Santorelli, F.M.; Casali, C. Journal: Clinical genetics Issue: Volume 86:Number 5(2014:Nov.) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine. Issue 4 (30th July 2015) Authors: Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome. Issue 1 (16th May 2019) Authors: Kloth, Katja; Renner, Sina; Burmester, Gunter; Steinemann, Doris; Pabst, Brigitte; Lorenz, Birgit; Simon, Ronald; Kolbe, Verena; Hempel, Maja; Rosenberger, Georg Journal: Clinical genetics Issue: Volume 96:Issue 1(2019) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 190‐kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly. (25th March 2013) Authors: Coutton, C; Bidart, M; Rendu, J; Devillard, F; Vieville, G; Amblard, F; Lopez, G; Jouk, P‐S; Satre, V Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 596 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. Issue 6 (25th March 2018) Authors: Machado, R.A.; Nogueira, E.N.; Martelli‐Júnior, H.; Reis, S.R.; Persuhn, D.C.; Coletta, R.D. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗