Lv5
978 积分 2025-01-14 加入
Central 22q11.2 deletions
12小时前
待确认
Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
12小时前
待确认
Identification of Copy Number Variants on Human Chromosome 22 in Patients with a Variety of Clinical Findings
12小时前
待确认
A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome
1个月前
已完结
Targeted next‐generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
1个月前
已完结
Identification of novel variants of XPA and POLH/XPV genes in xeroderma pigmentosum patients in Vietnam
2个月前
已完结
Targeted next‐generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
3个月前
已完结
Phenotypic spectrum of mutations in IBA57 , a candidate gene for cavitating leukoencephalopathy
3个月前
已完结
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review
3个月前
已完结
The Structure of an Open State of β-Actin at 2.65 Å Resolution
3个月前
已完结
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