Lv4
470 积分 2024-01-07 加入
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
2天前
已完结
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
4天前
已完结
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
5天前
已完结
Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease
6天前
已完结
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
10天前
已完结
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
13天前
已关闭
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
13天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
16天前
已完结
[Mutation analysis of GJB2 gene in 1 822 patients with nonsyndromic hearing loss in Zhejiang Province]
16天前
已完结
Additional mutations in argininosuccinate synthetase causing citrullinemia
22天前
已关闭
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