Lv53
920 积分 2023-08-29 加入
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
2小时前
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
2小时前
已完结
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up
9天前
已关闭
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes
13天前
已完结
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
14天前
已完结
五例遗传性凝血因子V缺陷症的基因分析
15天前
已关闭
The role of pathogenic TCF12 variants in children with coronal craniosynostosis—a systematic review with addition of two novel cases
20天前
已完结
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis
20天前
已完结
Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
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