Lv5
862 积分 2024-12-02 加入
Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3
9天前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
20天前
已完结
Molecular genotyping of the Italian cohort of patients with hemophilia B
29天前
已关闭
A Novel SCN5A Missense Variant Associated With Familial Non‐Dilated Left Ventricular Cardiomyopathy
30天前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
1个月前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
1个月前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
1个月前
已完结
[Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II]
1个月前
已完结
Gene symbol: ED1. Disease: Ectodermal dysplasia
1个月前
已关闭
A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction
2个月前
已完结
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