41. A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017) Authors: Khan, Anwar Kamal; Muhammad, Noor; Khan, Sher Alam; Ullah, Waheed; Nasir, Abdul; Afzal, Sibtain; Ramzan, Khushnooda; Basit, Sulman; Khan, Saadullah Journal: Annals of human genetics Issue: Volume 82:Number 3(2018:May) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
42. A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. (30th August 2019) Authors: Ma, Tengfei; Liu, Yi; Zhao, Xiaoxue; Wu, Jing; Wang, Huijuan; Chen, Jing; Liu, Peiwen; Zhang, Xu; Zhang, Xiangyu Journal: Annals of human genetics Issue: Volume 84:Number 1(2020:Jan.) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
43. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?. (12th April 2020) Authors: Gotta, Fabio; Lamp, Merit; Geroldi, Alessandro; Trevisan, Lucia; Origone, Paola; Fugazza, Giuseppina; Fabbri, Sabrina; Nesti, Claudia; Rubegni, Anna; Morani, Federica; Santorelli, Filippo Maria; Bellone, Emilia; Mandich, Paola Journal: Annals of human genetics Issue: Volume 84:Number 5(2020:Sep.) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
44. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. Issue 12 (December 2018) Authors: Lou, Xiaoting; Shi, Hao; Wen, Shumeng; Li, Yuanyuan; Wei, Xiujuan; Xie, Jie; Ma, Lin; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
45. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. Issue 12 (December 2018) Authors: Lou, Xiaoting; Shi, Hao; Wen, Shumeng; Li, Yuanyuan; Wei, Xiujuan; Xie, Jie; Ma, Lin; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
46. A novel nonsense variant in PLS3 causes X‐linked osteoporosis in a Chinese family. (26th July 2019) Authors: Wang, Lianqing; Bian, Xinchao; Cheng, Guangying; Zhao, Peiqing; Xiang, Xinxin; Tian, Wenxiu; Li, Tao; Zhai, Qiaoli Journal: Annals of human genetics Issue: Volume 84:Number 1(2020:Jan.) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
47. A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. (12th April 2019) Authors: Halperin, Daniel; Dolgin, Vadim; Geylis, Michael; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Schreiber, Ruth; Shalev, Hanna; Landau, Daniel; Birk, Ohad S. Journal: Annals of human genetics Issue: Volume 83:Number 5(2019:Sep.) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
48. A novel SNP in promoter region of RP11-3N2.1 is associated with reduced risk of colorectal cancer. Issue 1 (January 2018) Authors: Ye, Ding; Hu, Yunqing; Jing, Fangyuan; Li, Yingjun; Gu, Simeng; Jiang, Xiyi; Mao, Yingying; Li, Qilong; Jin, Mingjuan; Chen, Kun Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
49. A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences. (24th August 2022) Authors: Kim, Sang‐Mi; Noh, Eu Seon; Park, Jong‐Ho; Park, Hyung‐Doo; Lee, Soo‐Youn; Jang, Ja‐Hyun; Cho, Sung Yoon Journal: Annals of human genetics Issue: Volume 86:Number 6(2022) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
50. A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. (16th March 2015) Authors: Zapała, Barbara; Płatek, Teresa; Wybrańska, Iwona Journal: Annals of human genetics Issue: Volume 79:Number 3(2015:May) Page Start: 218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗