Lv31
290 积分 2024-06-20 加入
Ring chromosome 7: Report of the fifth case
1个月前
已完结
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
2个月前
已完结
Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss
3个月前
已完结
Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss
3个月前
已完结
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
4个月前
已完结
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia
5个月前
已完结
Amniocentesis in pregnancies at or beyond 24 weeks: An international multicenter study
5个月前
已完结
Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13
5个月前
已完结
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
5个月前
已完结
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
6个月前
已完结
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