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90 积分 2023-06-26 加入
Clinicopathological and molecular characteristics of fumarate hydratase–deficient uterine smooth muscle tumors: a single-center study of 52 cases
3天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
2个月前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
3个月前
已完结
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay
4个月前
已完结
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
4个月前
已完结
[A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis]
1年前
已完结
[Guidelines for the application of chromosomal microarray analysis in prenatal diagnosis (2023)]
1年前
已完结
Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease
1年前
已完结
SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond
1年前
已完结
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
1年前
已完结
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