Lv2
118 积分 2024-11-20 加入
Identification of seven exonic variants in the SLC4A1 , ATP6V1B1 , and ATP6V0A4 genes that alter RNA splicing by minigene assay
1天前
待确认
Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene
2天前
已完结
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes includingNDUFB9
26天前
已关闭
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I
1个月前
已完结
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China
1个月前
已完结
Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis
1个月前
已关闭
Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies
1个月前
已完结
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome
1个月前
已关闭
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up
1个月前
已完结
Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses
1个月前
已完结
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