Lv43
710 积分 2023-01-11 加入
Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder
7小时前
已完结
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
1天前
已关闭
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa
1个月前
已完结
ITPR1: The missing gene in miosis–ataxia syndrome?
1个月前
已完结
Two unrelated fetuses with ITPR1 missense variants and fetal hydrops
1个月前
已完结
Pathogenicity analysis of three SCA14-associated missense mutations in PRKCG gene of Chinese patients with ataxia
1个月前
已关闭
Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies
1个月前
已完结
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity
1个月前
已完结
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
1个月前
已完结
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings
2个月前
已完结
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