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360 积分 2025-09-01 加入
The genetic landscape of infantile spasms
23天前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries
1个月前
已关闭
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
2个月前
已完结
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome
2个月前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
2个月前
已完结
Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype
3个月前
已完结
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