Lv2
120 积分 2024-05-14 加入
Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants
6天前
已完结
DNAJC21‐related thrombocytopenia in a young adult female
1个月前
已完结
[Clinical features and genetic analysis of two Chinese pedigrees affected with Lymphedema-Distichiasis syndrome]
2个月前
已关闭
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
2个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
3个月前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
4个月前
已完结
Comprehensive Assays for Incontinentia Pigmenti Using Long-Read Sequencing and Its Application in Preimplantation Genetic Testing
4个月前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
6个月前
已关闭
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
6个月前
已关闭
Identification of Constitutional MLH1 Methylation in MLH1-Deficient Colorectal Cancer
6个月前
已完结
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