Lv1
60 积分 2024-10-28 加入
Genetic analysis of congenital stationary night blindness and Oguchi disease in an Indian cohort
6天前
已完结
Pathogenicity analysis of ATP7B in pediatric patients with Wilson’s disease and functional verification of alternative splice variants
13天前
已完结
[Synonymous variants of the ATP7B gene may cause abnormal splicing of mRNA by affecting the exonic splicing enhancers]
13天前
已完结
A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia
20天前
已完结
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
25天前
已完结
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease
26天前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
26天前
已完结
[Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency]
1个月前
已完结
A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan
1个月前
已关闭
Thirty-Nine Novel Neurofibromatosis 1 (NF1)Gene Mutations Identified in Slovak Patients
1个月前
已完结
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