Lv3
328 积分 2023-12-27 加入
A novel compound heterozygous mutation in the DNAH9 gene causes primary ciliary dyskinesia
9天前
已完结
Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease
14天前
已完结
Prenatal Sonographic Features of Rubinstein-Taybi Syndrome-A Small Case Series of a Rare Syndrome
14天前
已完结
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis
26天前
已完结
Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis
26天前
已完结
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)
26天前
已完结
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
1个月前
已完结
A new case of SUPT16H-associated syndromic neurodevelopmental delay
1个月前
已关闭
Genetic architecture of a single cohort of 230 Indian Parkinson's Disease patients
1个月前
已完结
SNCA-Related Parkinson's Disease Caused by Complete Chromosome 4 Paternal Uniparental Disomy
1个月前
已完结
皖公网安备34019202002308
