Lv12
20 积分 2024-11-23 加入
Functional analysis of a novel pathogenic variant in CREBBP associated with bone development
6小时前
已完结
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome
6小时前
已完结
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy
1天前
已完结
Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%
6天前
已关闭
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events
6天前
已完结
Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency
7天前
已完结
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion
8天前
已完结
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
10天前
已完结
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
16天前
已完结
Performing the comparative analysis to understand the functional roles of genes in different pathways of cardiomyopathy disease
20天前
已完结
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