Lv1
50 积分 2023-03-31 加入
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
6天前
已完结
Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study
7天前
已完结
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
12天前
已完结
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy
16天前
已完结
[Analysis of ALMS1 gene variants in seven patients with Alström syndrome]
16天前
已完结
Duplications in the DMD gene
21天前
已完结
Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online
24天前
已关闭
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review
27天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
28天前
已关闭
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
29天前
已完结
皖公网安备34019202002308
