11. A DFNA5 Mutation Identified in Japanese Families with Autosomal Dominant Hereditary Hearing Loss. (10th February 2014) Authors: Nishio, Ayako; Noguchi, Yoshihiro; Sato, Tatsuya; Naruse, Taeko K.; Kimura, Akinori; Takagi, Akira; Kitamura, Ken Journal: Annals of human genetics Issue: Volume 78:Number 2(2014:Mar.) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. A Family‐Based Joint Test for Mean and Variance Heterogeneity for Quantitative Traits. (13th November 2014) Authors: Cao, Ying; Maxwell, Taylor J.; Wei, Peng Journal: Annals of human genetics Issue: Volume 79:Number 1(2015:Jan.) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. A Family‐Based Robust Multivariate Association Test Using Maximum Statistic. (24th February 2014) Authors: Hsieh, Tsung‐Jen; Chang, Shu‐Hui; Tai, John Jen Journal: Annals of human genetics Issue: Volume 78:Number 2(2014:Mar.) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. A Family‐Based Robust Multivariate Association Test Using Maximum Statistic. (March 2014) Authors: Hsieh, Tsung‐Jen; Chang, Shu‐Hui; Tai, John Jen Journal: Annals of human genetics Issue: Volume 78:Number 2(2014:Mar.) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. A fascinating overview of the biology of fragile X syndrome. (January 2019) Authors: Hergersberg, Martin Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. A Genetic Variant rs1020760at NFKB1 is Associated with Clinical Features of Psoriasis Vulgaris in a Han Chinese Population. (July 2016) Authors: Wang, Wenjun; Zhu, Zhengwei; Zhu, Caihong; Zheng, Xiaodong; Zuo, Xianbo; Chen, Gang; Zhou, Fusheng; Liang, Bo; Tang, Huayang; Wang, Zaixing; Zhang, Xuejun; Sun, Liangdan Journal: Annals of human genetics Issue: Volume 80:Number 4(2016:Jul.) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21. (January 2019) Authors: Allach El Khattabi, Laïla; Backer, Stéphanie; Pinard, Amélie; Dieudonné, Marie-Noëlle; Tsatsaris, Vassilis; Vaiman, Daniel; Dandolo, Luisa; Bloch-Gallego, Evelyne; Jammes, Hélène; Barbaux, Sandrine Journal: European journal of human genetics Issue: Volume 27:Number 1(2019) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. A Genome‐Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab Family. (13th August 2013) Authors: Al Safar, Habiba S.; Cordell, Heather J.; Jafer, Osman; Anderson, Denise; Jamieson, Sarra E.; Fakiola, Michaela; Khazanehdari, Kamal; Tay, Guan K.; Blackwell, Jenefer M. Journal: Annals of human genetics Issue: Volume 77:Number 6(2013:Nov.) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018) Authors: Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. (8th September 2019) Authors: Qu, Ronggui; Sang, Qing; Wang, Xueqian; Xu, Yao; Chen, Biaobang; Mu, Jian; Zhang, Zhihua; Jin, Li; He, Lin; Wang, Lei Journal: Annals of human genetics Issue: Volume 84:Number 1(2020:Jan.) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗