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20 积分 2022-06-05 加入
CNV结合STR分型技术检测孕早期流产组织潜在葡萄胎效果及风险因素分析
2天前
已完结
Prader-Willi综合征125例临床表现及基因分析
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已完结
单亲二倍体染色体异常的研究进展
4天前
已完结
染色体纯合区域在产前诊断中的检出率及临床意义
9天前
已完结
Trio‐WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China
11天前
已完结
The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene
11天前
已完结
Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing
15天前
已完结
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age]
1个月前
已完结
综合性携带者筛查关键问题专家共识(2024版)
1个月前
已完结
儿童先天性心脏病遗传学检测与临床应用专家共识(2025)
1个月前
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