Lv3
272 积分 2020-11-09 加入
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review
2天前
已完结
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
18天前
已完结
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
18天前
已完结
Epidemiological Characteristics of Children With Non-Cleft Lip/Palate Craniofacial Anomalies
1个月前
已关闭
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
1个月前
已完结
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
2个月前
已完结
Molecular analysis of 31 cases with fetal skeletal dysplasia
2个月前
已关闭
NMNAT1-ASSOCIATED CONE–ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT
2个月前
已关闭
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
2个月前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
2个月前
已关闭
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