1. A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma. (1st January 2015) Authors: Kinsler, V.A.; Drury, S.; Khan, A.; Waelchli, R.; Rukaite, G.; Barnicoat, A.; Lench, N.; Harper, J.I.; O'Shaughnessy, R.F.L. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma. (9th December 2014) Authors: Kinsler, V.A.; Drury, S.; Khan, A.; Waelchli, R.; Rukaite, G.; Barnicoat, A.; Lench, N.; Harper, J.I.; O'Shaughnessy, R.F.L. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. Issue 4 (11th February 2018) Authors: Ishida, M.; Cullup, T.; Boustred, C.; James, C.; Docker, J.; English, C.; Lench, N.; Copp, A.J.; Moore, G.E.; Greene, N.D.E.; Stanier, P. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 870 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly. (27th July 2017) Authors: Carter, J.; Brittain, H.; Morrogh, D.; Lench, N.; Waters, J. J. Other Names: Melegh Béla Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗