Lv41
630 积分 2024-01-08 加入
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
2小时前
已完结
Variation in GABA‐A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
5天前
已完结
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits
8天前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
9天前
已关闭
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
1个月前
已完结
Mutations in ASH1L confer susceptibility to Tourette syndrome
1个月前
已完结
Mutations in ASH1L confer susceptibility to Tourette syndrome
1个月前
已完结
Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder
2个月前
已完结
Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data
3个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
3个月前
已完结
皖公网安备34019202002308
