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40 积分 2024-10-16 加入
[Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15]
11天前
已完结
432PSevere neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum
1个月前
已关闭
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States
1个月前
已完结
Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing
1个月前
已完结
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification
1个月前
已完结
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia
1个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1个月前
已完结
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences
1个月前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1个月前
已完结
[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene]
2个月前
已完结
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