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210 积分 2021-08-28 加入
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
5天前
已完结
High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations
2个月前
已完结
Utility of trio‐based prenatal exome sequencing incorporating splice‐site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study
3个月前
已完结
Breast cancer risk stratification using genetic and non-genetic risk assessment tools for 246,142 women in the UK Biobank
4个月前
已完结
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
4个月前
已完结
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
4个月前
已完结
Correspondence on "Comparison of literature mining tools for variant classification: Through the lens of 50 RYR1 variants" by Wermers et al
4个月前
已完结
A multi-center analysis of individuals with a 47,XXY/46,XX karyotype
4个月前
已完结
Fetal fraction in noninvasive prenatal testing and adverse pregnancy outcomes
4个月前
已完结
Universal Targeted Haplotyping by Droplet Digital PCR Sequencing and Its Applications in Noninvasive Prenatal Testing and Pharmacogenetics Analysis
5个月前
已完结
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