Lv2
168 积分 2025-05-12 加入
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
9天前
已完结
Clinical exome sequencing findings in 1589 patients
26天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
28天前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
28天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
29天前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
29天前
已完结
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
30天前
已完结
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
30天前
已完结
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
1个月前
已完结
Perinatal palliative care for family with prenatal diagnosis of Matthew‐Wood syndrome
1个月前
已关闭
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