Lv62
2600 积分 2022-10-09 加入
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
5个月前
已关闭
De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy
7个月前
已完结
Peripheral blood–derived PD-1/CD28–CD19-CAR–modified PD-1+ T-cell therapy in patients with solid tumors
10个月前
已完结
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
11个月前
已完结
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants
11个月前
已完结
Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies
11个月前
已完结
[Chinese clinical practice guidelines for the diagnosis and treatment of juvenile idiopathic arthritis (2023 edition)]
1年前
已完结
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
1年前
已完结
Biallelic OTUD6B variants associated with a Kabuki syndrome‐like disorder in three siblings: A clinical report and literature review
1年前
已完结
Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
1年前
已完结
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