Lv1
58 积分 2023-08-30 加入
Clinical and Molecular Characteristics of Eight Israeli Families with Thyroid Hormone Receptor Beta Mutations
1天前
已关闭
Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience
1天前
已完结
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
15天前
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[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
17天前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
17天前
已关闭
[Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas]
18天前
已关闭
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
22天前
已完结
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia
22天前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
22天前
已完结
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
24天前
已完结
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