Lv12
40 积分 2025-12-29 加入
Genetic background of selected hyperuricemia causing gout with pediatric onset
14小时前
已关闭
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study
14小时前
已完结
Retinal degeneration diagnosed at 12 and 13 months and sensorineural hearing loss in two unrelated female infants with PRS deficiency
14小时前
已完结
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder
14小时前
已完结
Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein
3个月前
已关闭
[Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism]
3个月前
已关闭
DFNB9基因治疗：从基础研究到临床转化
4个月前
已完结
Genetic Hearing Loss Overview
4个月前
已关闭
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21
5个月前
已关闭
Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms
6个月前
已完结
皖公网安备34019202002308
