Lv1
36 积分 2023-02-08 加入
Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions
1个月前
已完结
Noninvasive twin genotyping for recessive monogenic disorders by relative haplotype dosage
2个月前
已完结
Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disorders
2个月前
已完结
Haplotype‐Resolved Genotyping and Association Analysis of 1,020 β‐Thalassemia Patients by Targeted Long‐Read Sequencing
4个月前
已完结
[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy]
4个月前
已完结
The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia
4个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
5个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
5个月前
已关闭
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
5个月前
已完结
Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations
5个月前
已完结
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