Lv22
108 积分 2025-05-12 加入
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
8小时前
待确认
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
9小时前
待确认
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
1天前
已完结
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
1天前
已完结
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
6天前
已完结
Perinatal palliative care for family with prenatal diagnosis of Matthew‐Wood syndrome
22天前
已关闭
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
27天前
已完结
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations
1个月前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
1个月前
已关闭
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
1个月前
已完结
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