Lv11
50 积分 2023-08-16 加入
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
2小时前
待确认
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
24天前
已关闭
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy
1个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
1个月前
已完结
Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome
2个月前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
2个月前
已完结
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
3个月前
已完结
Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review
3个月前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
4个月前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
4个月前
已完结
皖公网安备34019202002308
