Lv11
40 积分 2025-08-23 加入
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
3小时前
待确认
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
16天前
已完结
Molecular damage in Fabry disease: Characterization and prediction of alpha‐galactosidase A pathological mutations
20天前
已完结
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines
1个月前
已关闭
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines
1个月前
已完结
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
1个月前
已完结
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
1个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已关闭
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
1个月前
已完结
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
1个月前
已完结
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