Lv11
60 积分 2025-02-09 加入
Diagnostic and clinical utility of genetic testing in children with kidney failure
13小时前
待确认
On-off-on electrochemiluminescence biosensor with dual-cycle amplification for ultrasensitive prenatal detection of thalassemia mutations using lanthanide europium nanorods
6天前
已完结
Noninvasive Prenatal Genetic Screening of Cell-Free Fetal DNA for Early Prediction of β-Thalassemia Using Fiber Optic Nanogold-Linked Sorbent Assay
10天前
已完结
Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al
10天前
已完结
Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy
13天前
已完结
A novel and accessible proband-free approach for noninvasive prenatal diagnosis of single-gene disorders
15天前
已完结
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
1个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
Reversal of idiopathic hypogonadotropic hypogonadism in a Chinese male cohort
1个月前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
1个月前
已完结