Lv1
40 积分 2023-07-23 加入
RNA expression profiling in lymphoblastoid cell lines from mutated and non‐mutated amyotrophic lateral sclerosis patients
1天前
已完结
Mechanisms and regulation of substrate degradation by the 26S proteasome
2天前
已完结
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome
2天前
已完结
Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease
15天前
已完结
Houge-Janssens syndrome
15天前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
20天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
1个月前
已完结
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up
1个月前
已完结
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
1个月前
已完结