Lv4
550 积分 2022-11-16 加入
The morbid genome of ciliopathies: an update
18天前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
21天前
已完结
Our experience with McKusick-Kaufman syndrome patients
26天前
已关闭
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
28天前
已关闭
EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME
1个月前
已完结
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
1个月前
已完结
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
1个月前
已完结
EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME
1个月前
已关闭
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population
3个月前
已完结
Refractive Error in Inherited Retinal Disease
4个月前
已完结
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