Lv64
2140 积分 2023-12-05 加入
Short Stature With Optic Atrophy and Cone Dystrophy
2天前
已完结
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
6天前
已完结
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
9天前
已完结
Short Stature With Optic Atrophy and Cone Dystrophy
10天前
已完结
ADSL Deficiency – The Lesser-Known Metabolic Epilepsy in Infancy
10天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
10天前
已关闭
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
17天前
已完结
Expanding the Genetic and Phenotypic Spectrum of Mowat‐Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
20天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
21天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
21天前
已完结
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