1. Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Issue 2 (April 2018) Authors: Schirwani, Schaida; Smith, Kath; Balasubramanian, Meena Journal: Clinical dysmorphology Issue: Volume 27:Issue 2(2018:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical report. Issue 4 (October 2015) Authors: Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Journal: Clinical dysmorphology Issue: Volume 24:Issue 4(2015:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability. Issue 4 (October 2015) Authors: Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Journal: Clinical dysmorphology Issue: Volume 24:Issue 4(2015:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. Issue 2 (15th October 2015) Authors: Balasubramanian, Meena; Cartwright, Ashley; Smith, Kath; Arundel, Paul; Bishop, Nicholas J. Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability. Issue 5 (21st April 2018) Authors: Schirwani, Schaida; Wakeling, Emma; Smith, Kath; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fluorescence in situ hybridisation (FISH) in histologically challenging conjunctival melanocytic lesions. Issue 1 (8th November 2012) Authors: Mudhar, Hardeep Singh; Smith, Kath; Talley, Polly; Whitworth, Abigail; Atkey, Neil; Rennie, Ian G Journal: British journal of ophthalmology Issue: Volume 97:Issue 1(2013) Page Start: 40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability. Issue 1 (January 2016) Authors: Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath Journal: Clinical dysmorphology Issue: Volume 25:Issue 1(2016:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties. Issue 7 (7th May 2018) Authors: Balasubramanian, Meena; Fratzl‐Zelman, Nadja; O'Sullivan, Rory; Bull, Mary; FA Peel, Nicola; Pollitt, Rebecca C; Jones, Rebecca; Milne, Elizabeth; Smith, Kath; Roschger, Paul; Klaushofer, Klaus; Bishop, Nicholas J Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pneumothorax from subpleural blebs—A new association of sotos syndrome?. Issue 5 (23rd January 2014) Authors: Balasubramanian, Meena; Shearing, Emma; Smith, Kath; Chavasse, R.; Taylor, R.; Tatton‐Brown, Katrina; Primhak, Robert; Ugonna, Kelechi; Parker, Michael J. Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Who are the Experts Here?: Recognition of Aboriginal women and community workers in research and beyond. (June 2015) Authors: Sherwood, Juanita; Lighton, Stacey; Dundas, Kay; French, Teresa; Link-Gordon, Dixie; Smith, Kath; Anthony, Thalia Journal: Alternative Issue: Volume 11:issue 2(2015) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗