Lv62
2730 积分 2022-11-01 加入
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders
5天前
已完结
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders
5天前
已关闭
Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan
27天前
已完结
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities
28天前
已完结
Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis
28天前
已完结
Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review
1个月前
已完结
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
1个月前
已完结
Molecular insights into genodermatoses: Genetic findings from 43 patients
1个月前
已完结
Clinical features of patients with mutations in genes for nanophthalmos
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
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