Lv22
110 积分 2024-06-20 加入
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
8小时前
已完结
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia
1个月前
已完结
Amniocentesis in pregnancies at or beyond 24 weeks: An international multicenter study
1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
1个月前
已完结
Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome
1个月前
已完结
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
1个月前
已完结
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
2个月前
已关闭
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
2个月前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
2个月前
已完结
Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
5个月前
已完结
皖公网安备34019202002308
