Lv2
108 积分 2024-11-20 加入
Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
18天前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations
1个月前
已完结
Prenatal diagnosis and outcomes in fetuses with duplex kidney
1个月前
已完结
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
1个月前
已完结
Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series
1个月前
已完结
Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series
1个月前
已完结
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes
1个月前
已完结
Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18
1个月前
已完结
Views of adults with 22q11 deletion syndrome on reproductive choices
2个月前
已完结
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