Lv3
358 积分 2022-03-21 加入
The Complexity of Decisions in Genetics: Annotation of Three Novel Variants in the PKD1 and PKD2 Genes
8小时前
求助中
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
26天前
已完结
[Triploidy syndrome: a case report]
2个月前
已关闭
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia
2个月前
已完结
[A case of XX/XXY Klinefelter syndrome]
2个月前
已关闭
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder
3个月前
已完结
A novel ZC4H2 variant in a female with severe respiratory complications
3个月前
已完结
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
3个月前
已完结
Is trisomy 5 a distinct cytogenetic subgroup in acute lymphoblastic leukemia?
4个月前
已完结
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
4个月前
已完结
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