21. Report from the fifth international consensus meeting to harmonize core outcome measures for atopic eczema/dermatitis clinical trials (HOME initiative). (1st May 2018) Authors: Chalmers, J.R.; Thomas, K.S.; Apfelbacher, C.; Williams, H.C.; Prinsen, C.A.; Spuls, P.I.; Simpson, E.; Gerbens, L.A.A.; Boers, M.; Barbarot, S.; Stalder, J.F.; Abuabara, K.; Aoki, V.; Ardeleanu, M.; Armstrong, J.; Bang, B.; Berents, T.L.; Burton, T.; Butler, L.; Chubachi, T. Journal: British journal of dermatology Issue: Volume 178:Number 5(2018) Page Start: e332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. (1st February 2017) Authors: Takeichi, T.; Nanda, A.; Yang, H.‐S.; Hsu, C.‐K.; Lee, J.Y.‐Y.; Al‐Ajmi, H.; Akiyama, M.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 176:Number 2(2017) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. (22nd December 2016) Authors: Takeichi, T.; Nanda, A.; Yang, H.‐S.; Hsu, C.‐K.; Lee, J.Y.‐Y.; Al‐Ajmi, H.; Akiyama, M.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 176:Number 2(2017) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease. (1st May 2016) Authors: Muggenthaler, M.; Petropoulou, E.; Omer, S.; Simpson, M.A.; Sahak, H.; Rice, A.; Raju, H.; Conti, F.J.; Bridges, L.R.; Anderson, L.J.; Sharma, S.; Behr, E.R.; Jamshidi, Y. Journal: International journal of cardiology Issue: Volume 210(2016) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family. (1st May 2015) Authors: Takeichi, T.; Nanda, A.; Aristodemou, S.; McMillan, J.R.; Lee, J.; Akiyama, M.; Al‐Ajmi, H.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 172:Number 5(2015:May) Page Start: 1407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family. (7th March 2015) Authors: Takeichi, T.; Nanda, A.; Aristodemou, S.; McMillan, J.R.; Lee, J.; Akiyama, M.; Al‐Ajmi, H.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 172:Number 5(2015:May) Page Start: 1407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. (19th November 2014) Authors: Takeichi, T.; Liu, L.; Fong, K.; Ozoemena, L.; McMillan, J.R.; Salam, A.; Campbell, P.; Akiyama, M.; Mellerio, J.E.; McLean, W.H.I.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. (1st January 2015) Authors: Takeichi, T.; Liu, L.; Fong, K.; Ozoemena, L.; McMillan, J.R.; Salam, A.; Campbell, P.; Akiyama, M.; Mellerio, J.E.; McLean, W.H.I.; Simpson, M.A.; McGrath, J.A. Journal: British journal of dermatology Issue: Volume 172:Number 1(2015:Jan.) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. 一项关于基因突变及其与不同鱼鳞病类型相关性的研究. (1st March 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. 一项关于基因突变及其与不同鱼鳞病类型相关性的研究. (28th February 2020) Authors: Simpson, J.K.; Martinez‐Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M.A.; Desomchoke, R.; Youssefian, L.; SaeIdian, A.H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E.A.; Burrows, N.; Leech, S. Journal: British journal of dermatology Issue: Volume 182:Number 3(2020) Page Start: e114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗