Lv11
30 积分 2024-12-03 加入
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature
4小时前
已完结
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population
4天前
已完结
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
1个月前
已完结
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
5个月前
已关闭
Genomic Landscape of Sporadic Retinitis Pigmentosa
5个月前
已关闭
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
5个月前
已关闭
Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
5个月前
已完结
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta‐like 3 mutations
6个月前
已完结
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression
6个月前
已完结
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
6个月前
已完结
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