Lv3
344 积分 2024-04-11 加入
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
7天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
28天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
28天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
28天前
已完结
Prenatal thoraco-amniotic chest drain insertion to manage a case of fetal hydrops secondary to FOXC2
1个月前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families
1个月前
已完结
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis
1个月前
已关闭
Intellectual developmental disorder 56 associated with novel variants in the clathrin heavy chain encoding CLTC gene and brief review of the literature
1个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2个月前
已完结
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