Lv1
70 积分 2022-09-05 加入
Comprehensive Scanning of the Entire Mitochondrial Genome for Mutations
1天前
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
Differences in onset between eyes in patients with Leber's hereditary optic neuropathy (LHON)
2个月前
已关闭
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
2个月前
已关闭
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment
4个月前
已完结
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
4个月前
已关闭
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
6个月前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
6个月前
已完结
HiFi long-read genomes for difficult-to-detect clinically relevant variants
7个月前
已完结
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
7个月前
已完结
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