Lv5
873 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
Cytochrome P450 1B1 directs pathogenic Th17 cell generation and autoimmune disease by fine-tuning redox homeostasis and mitochondrial integrity
4天前
已完结
Arachidonic acid triggers spermidine synthase secretion from primary tumor to induce skeletal muscle weakness upon irradiation
4天前
已完结
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
6天前
已完结
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus
8天前
已完结
Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing
10天前
已完结
一例Xp22.12微重复胎儿的产前诊断及遗传学分析
12天前
已完结
MAPLE enables ultrasensitive detection of low-frequency cfDNA methylation haplotypes using short capture probes with cost-efficient performance
12天前
已完结
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder
12天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
22天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
22天前
已完结
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