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26 积分 2022-12-22 加入
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
2天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2天前
已完结
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene
3天前
已完结
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
4天前
已完结
[Analysis of TWNK variant in a family affected with Perrault syndrome]
4天前
已关闭
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
10天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
15天前
已完结
Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources
16天前
已完结
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness
17天前
已完结
Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report
17天前
已关闭
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