Lv61
2300 积分 2023-02-18 加入
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
2小时前
待确认
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
1个月前
已完结
Mixed Gonadal Dysgenesis: A Narrative Literature Review and Clinical Primer for the Urologist
3个月前
已完结
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia
4个月前
已完结
Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia
6个月前
已关闭
Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan–Herndon–Dudley Syndrome
6个月前
已完结
Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group
7个月前
已完结
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review
7个月前
已完结
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
7个月前
已完结
高氧环境对肺动脉平滑肌细胞表型的影响
8个月前
已采纳
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