Lv1
30 积分 2024-12-03 加入
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
3个月前
已关闭
Genomic Landscape of Sporadic Retinitis Pigmentosa
3个月前
已关闭
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
3个月前
已关闭
Follow-up results of patients with ADCK4 mutations and the efficacy of CoQ10 treatment
3个月前
已完结
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta‐like 3 mutations
3个月前
已完结
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression
3个月前
已完结
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
3个月前
已完结
Whole‐exome sequencing and host cell reactivation assay lead to a diagnosis of xeroderma pigmentosum group D with mild ultraviolet radiation sensitivity
3个月前
已完结
ELP2 is a novel gene implicated in neurodevelopmental disabilities
3个月前
已完结
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
3个月前
已完结
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