Lv21
136 积分 2024-08-06 加入
[Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes]
7小时前
待确认
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
18天前
已完结
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome MYH3‐Related
1个月前
已完结
Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
1个月前
已完结
MYH7 variants cause complex congenital heart disease
1个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
1个月前
已完结
Nagashima‐type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants
1个月前
已完结
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