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400 积分 2025-05-27 加入
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
2天前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
2天前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
3天前
求助中
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex
5天前
已完结
Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1
1个月前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
1个月前
已完结
[Analysis of IVD gene variants in four children with isovalerate acidemia]
1个月前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
1个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2个月前
已完结
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
2个月前
已完结
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