Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family

揭开阿尔斯特伦综合征之谜：扩展家族中ALMS1基因同源突变c.2729C>G

2023-11-8

Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso

DNA修复基因ERCC1（rs3212986）和ERCC2（rs1799793，rs13181）多态性与布基纳法索乳腺癌发生的关系

2023-1-3

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

临床外显子测序和靶向基因分析在甲基丙二酸血症合并同型半胱氨酸尿症钴胺素C型产前诊断中的应用

2021-10-16

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

SMN1基因同型双重突变：复杂型脊髓性肌萎缩症的遗传诊断

2013-5-30

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

全外显子测序在伊朗患者中发现首个COLEC10基因纯合移码变异，导致3MC综合征3型

2021-10-12

Screening of Inherited Retinal Disease Patients in a Low‐Resource Setting Using an Augmented Next‐Generation Sequencing Panel

在低资源环境下使用增强型下一代测序面板筛查遗传性视网膜疾病患者

2024-12-1

A Novel Mutation Located in the N‐Terminal Domain of MYO15A Caused Sensorineural Hearing Loss

一种位于MYO15A N端结构域的新突变导致感音神经性听力损失

2024-12-1

Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5

涉及ERCC8和NDUFAF2外显子1的纯合微缺失与5号染色体单亲同源同型 注：由于原文中使用了特殊标记和，这些标记在翻译中没有直接对应的中文表达，因此保留了原文的结构和标记方式。如果需要更自然的中文表达，可以去掉这些标记，直接翻译为：“涉及ERCC8和NDUFAF2外显子1的纯合微缺失与5号染色体单亲同源同型”。

2024-12-1