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110 积分 2021-07-23 加入
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
11小时前
待确认
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
11小时前
已完结
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
3个月前
已完结
Trends in rare disease drug development
3个月前
已完结
[Expert consensus on the diagnosis and treatment of androgen insensitivity syndrome in children]
5个月前
已完结
Missense mutation of ISL1 (E283D) is associated with the development of type 2 diabetes
5个月前
已完结
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
6个月前
已完结
Cerebral cavernous malformations – An overview on genetics, clinical aspects and therapeutic strategies
6个月前
已完结
[Exploring the clinical genetic characteristics and height for age growth curve of 210 patients with achondroplasia in China]
7个月前
已完结
Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
7个月前
已完结
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