Lv22
122 积分 2024-07-03 加入
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
1小时前
待确认
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
2小时前
已完结
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
2小时前
已完结
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
2小时前
已完结
Child Neurology: Remarkable Recovery From Severe Acute Necrotizing Encephalopathy
7天前
已关闭
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
1个月前
已完结
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
1个月前
已完结
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
1个月前
已完结
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
1个月前
已完结
Functional Characterization of a Novel SLC4A4 Variant and Uniparental Isodisomy in Proximal Renal Tubular Acidosis Patient
2个月前
已完结
高龄老年(≥75岁)急性冠状动脉综合征患者规范化诊疗中国专家共识
1个月前
已采纳
产前筛查与诊断的质量控制与热点问题
2个月前
已采纳
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