Lv52
1220 积分 2023-10-03 加入
Whole-exome sequencing for screening noise-induced hearing loss susceptibility genes
3个月前
已完结
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans
3个月前
已关闭
Novel TMEM53 missense variant generated a new ubiquitination site and cause Craniotubular dysplasia, Ikegawa type
3个月前
已关闭
Epidemiology and aetiology of chronic rhinosinusitis in Asia—A narrative review
3个月前
已完结
Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss
4个月前
已关闭
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate
4个月前
已完结
Waardenburg syndrome type 1: a case report of a family with a intragenic PAX3 deletion with no hearing loss or heterochromia of iris
4个月前
已关闭
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa
5个月前
已完结
The 133-kDa N-terminal region of myosin XVa is critical for normal structure and function of auditory and hair cells
6个月前
已完结
The NLR gene family: from discovery to present day
8个月前
已完结