Lv2
180 积分 2024-12-12 加入
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb–polysyndactyly syndrome changes the pattern of local interactions
4个月前
已完结
Contribution of copy number variations to education, socioeconomic status and cognition from a genome-wide study of 305,401 subjects
7个月前
已完结
Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis
8个月前
已完结
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines
10个月前
已完结
Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies
1年前
已完结
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study
1年前
已完结
Prenatal diagnosis and genetic counseling of a Chinese family with inherited multiple chromosomal microduplications
1年前
已完结
Evaluating the clinical utility and strategy of whole exome sequencing testing for fetuses with increased nuchal translucency
1年前
已完结
Decoding a Skeletal Mystery: Prenatal Diagnosis of ALPL mutation using Whole Exome Sequencing
1年前
已完结
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