Lv51
830 积分 2021-12-17 加入
Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case
2小时前
求助中
X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing
2个月前
已完结
Two patients with KDM3B variants and new presentations of Diets–Jongmans syndrome
6个月前
已完结
Six Different Point Mutations in Seven Danish Families with Symptomatic Protein C Deficiency
7个月前
已完结
Clinical exome sequencing findings in 1589 patients
7个月前
已完结
Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
8个月前
已完结
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
9个月前
已完结
Crystal structure of a copper-transporting PIB-type ATPase
9个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
1年前
已完结
Prenatal exome sequencing in fetuses with callosal anomalies
1年前
已完结
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