Last Posted: Oct 07, 2019
- Genetic therapies for hearing loss: Accomplishments and remaining challenges.
Taiber Shahar et al. Neuroscience letters 2019 Oct 134527 - Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai Pu et al. American journal of human genetics 2019 Sep - GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank
HRR Wells et al, AJHG, September 26, 2019 - Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Yongyi et al. European journal of human genetics : EJHG 2019 Sep - Genetics of Hereditary Hearing Loss in the Middle East: A Systematic Review of the Carrier Frequency of the GJB2 Mutation (35delG).
Koohiyan Mahbobeh et al. Audiology & neuro-otology 2019 Sep 1-5 - Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.
Zou Songfeng et al. Clinical genetics 2019 Sep - Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1 -mediated Paget's disease of bone.
Cronin Owen et al. BMJ open 2019 Sep 9(9) e030689 - [Pay attention to rare diseases of the genetic counseling in deafness].
Wang Q J et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2019 Sep 33(9) 799-803 - Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA.
Wang Yabing et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Aug - Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Oldak Monika et al. Journal of translational medicine 2019 Aug 17(1) 269
.png)
No hay comentarios:
Publicar un comentario