1. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. Issue 3 (10th February 2018) Authors: Shao, Leping; Cui, Li; Lu, Jingru; Lang, Yanhua; Bottillo, Irene; Zhao, Xiangzhong Journal: FEBS open bio Issue: Volume 8:Issue 3(2018) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report. Issue 11 (12th November 2022) Authors: Zhao, Xiangzhong; Sui, Aihua; Cui, Li; Liu, Zhiying; Zhang, Ruixiao; Han, Yue; Shao, Leping Journal: Clinical case reports Issue: Volume 10:Issue 11(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Concurrent non‐crystalline light chain proximal tubulopathy and light chain deposition disease: a case report. Issue 5 (5th November 2020) Authors: Shao, Leping; Jiang, Weina; Wang, Wenfeng; Cai, Yan; Sun, Yan; Zhang, Ruixiao; Bian, Luyan; Fu, Haixia; Zhang, Shujian; Mou, Cuiping; Du, Huasheng; You, Qingqing; Hua, Jian; Fan, Xinping; Gao, Yan; Guo, Wencong Journal: Nephrology Issue: Volume 26:Issue 5(2021) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition. Issue 23 (7th July 2022) Authors: Liu, Zhiying; Sui, Aihua; Wang, Sai; Cui, Li; Xin, Qing; Zhang, Ruixiao; Han, Yue; Shao, Leping; Zhao, Xiangzhong Journal: Human molecular genetics Issue: Volume 31:Issue 23(2022) Page Start: 4006 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Issue 4 (28th June 2021) Authors: Guo, Wencong; Song, Qijing; Zhang, Ruixiao; Xin, Qing; Liu, Zhiying; Lang, Yanhua; Zhao, Xiangzhong; Shao, Leping Journal: Clinical genetics Issue: Volume 100:Issue 4(2021) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. Issue 9 (30th June 2021) Authors: Zhang, Ruixiao; Chen, Zeqing; Song, Qijing; Wang, Sai; Liu, Zhiying; Zhao, Xiangzhong; Shi, Xiaomeng; Guo, Wencong; Lang, Yanhua; Bottillo, Irene; Shao, Leping Journal: Human mutation Issue: Volume 42:Issue 9(2021) Page Start: 1153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. Issue 10 (22nd August 2022) Authors: Guo, Wencong; Shao, Yingfei; Lang, Yanhua; Wang, Hong; Lin, Yi; Liu, Xuyan; Zhang, Ruixiao; Shao, Leping Journal: Nephrology Issue: Volume 27:Issue 10(2022) Page Start: 810 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Issue 4 (3rd January 2023) Authors: Shi, Xiaomeng; Wang, Hong; Zhang, Ruixiao; Liu, Zhiying; Guo, Wencong; Wang, Sai; Liu, Xuyan; Lang, Yanhua; Bottillo, Irene; Dong, Bingzi; Shao, Leping Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis. (September 2014) Authors: Gao, Yanxia; Xu, Yan; Li, Qingyang; Lang, Yanhua; Dong, Qian; Shao, Leping Journal: Renal failure Issue: Volume 36:Number 8(2014) Page Start: 1226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree. Issue 12 (8th November 2021) Authors: Liu, Zhiying; Zhang, Haiyan; Zhao, Shipeng; Zhang, Qian; Zhang, Ruixiao; Han, Yue; Shao, Leping; Zhao, Xiangzhong Journal: Nephrology Issue: Volume 26:Issue 12(2021) Page Start: 1018 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗