Lv61
1660 积分 2023-12-05 加入
Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients
12天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
15天前
已完结
Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
23天前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
1个月前
已完结
Genotype–phenotype correlation ofSQSTM1variants in patients with amyotrophic lateral sclerosis
1个月前
已关闭
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
Genetic diagnosis of childhood sensorineural hearing loss
1个月前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
1个月前
已关闭
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
1个月前
已完结
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
1个月前
已完结
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